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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-1049013-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1049013&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1049013,
"ref": "A",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_019112.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "NM_019112.4",
"protein_id": "NP_061985.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2146,
"cds_start": null,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263094.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019112.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "ENST00000263094.11",
"protein_id": "ENSP00000263094.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2146,
"cds_start": null,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019112.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263094.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.3060+8A>T",
"hgvs_p": null,
"transcript": "ENST00000433129.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000433129.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438044.1",
"protein_id": "XP_047294000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2146,
"cds_start": null,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438045.1",
"protein_id": "XP_047294001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": null,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_006722616.2",
"protein_id": "XP_006722679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2128,
"cds_start": null,
"cds_end": null,
"cds_length": 6387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722616.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438046.1",
"protein_id": "XP_047294002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2128,
"cds_start": null,
"cds_end": null,
"cds_length": 6387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438046.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438047.1",
"protein_id": "XP_047294003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2103,
"cds_start": null,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438047.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438048.1",
"protein_id": "XP_047294004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1997,
"cds_start": null,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.1924+8A>T",
"hgvs_p": null,
"transcript": "XM_047438049.1",
"protein_id": "XP_047294005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1994,
"cds_start": null,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438051.1",
"protein_id": "XP_047294007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1988,
"cds_start": null,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438052.1",
"protein_id": "XP_047294008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1688,
"cds_start": null,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_006722617.3",
"protein_id": "XP_006722680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1636,
"cds_start": null,
"cds_end": null,
"cds_length": 4911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722617.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_011527633.3",
"protein_id": "XP_011525935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1631,
"cds_start": null,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527633.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438053.1",
"protein_id": "XP_047294009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1593,
"cds_start": null,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_011527634.2",
"protein_id": "XP_011525936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1487,
"cds_start": null,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527634.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_011527635.2",
"protein_id": "XP_011525937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1487,
"cds_start": null,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527635.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.89+8A>T",
"hgvs_p": null,
"transcript": "XM_047438054.1",
"protein_id": "XP_047294010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": null,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.89+8A>T",
"hgvs_p": null,
"transcript": "XM_047438055.1",
"protein_id": "XP_047294011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": null,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438055.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null,
"transcript": "XM_047438056.1",
"protein_id": "XP_047294012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.2607+8A>T",
"hgvs_p": null,
"transcript": "XR_007066538.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.2607+8A>T",
"hgvs_p": null,
"transcript": "XR_936149.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
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"exon_count": 37,
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"gene_symbol": "ABCA7",
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"transcript": "XR_936152.2",
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 17,
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"gene_symbol": "ABCA7",
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"hgvs_c": "n.2607+8A>T",
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"transcript": "XR_936154.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_936154.2"
}
],
"gene_symbol": "ABCA7",
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"dbsnp": "rs4147912",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.241,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000020781254830237,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_019112.4",
"gene_symbol": "ABCA7",
"hgnc_id": 37,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2380+8A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}