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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: 5-129602436-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=129602436&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 129602436,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_133638.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "NM_133638.6",
"protein_id": "NP_598377.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274487.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133638.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000274487.9",
"protein_id": "ENSP00000274487.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133638.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274487.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1601+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913209.1",
"protein_id": "ENSP00000583268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1254,
"cds_start": null,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913210.1",
"protein_id": "ENSP00000583269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1247,
"cds_start": null,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913213.1",
"protein_id": "ENSP00000583272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": null,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913214.1",
"protein_id": "ENSP00000583273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": null,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913215.1",
"protein_id": "ENSP00000583274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1212,
"cds_start": null,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913211.1",
"protein_id": "ENSP00000583270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913216.1",
"protein_id": "ENSP00000583275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": null,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "ENST00000913212.1",
"protein_id": "ENSP00000583271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1142,
"cds_start": null,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "XM_047416876.1",
"protein_id": "XP_047272832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1228,
"cds_start": null,
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"cds_length": 3687,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416876.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "XM_047416877.1",
"protein_id": "XP_047272833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047416877.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null,
"transcript": "XM_047416878.1",
"protein_id": "XP_047272834.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416878.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "ADAMTS19",
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"hgvs_c": "c.746+5772A>T",
"hgvs_p": null,
"transcript": "XM_011543246.3",
"protein_id": "XP_011541548.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011543246.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.746+5772A>T",
"hgvs_p": null,
"transcript": "XM_047416879.1",
"protein_id": "XP_047272835.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 980,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047416879.1"
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 22,
"intron_rank": 7,
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"gene_symbol": "ADAMTS19",
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"hgvs_c": "c.746+5772A>T",
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"transcript": "XM_047416880.1",
"protein_id": "XP_047272836.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047416880.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.746+5772A>T",
"hgvs_p": null,
"transcript": "XM_047416881.1",
"protein_id": "XP_047272837.1",
"transcript_support_level": null,
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"aa_length": 969,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047416881.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.452+5772A>T",
"hgvs_p": null,
"transcript": "XM_017009174.2",
"protein_id": "XP_016864663.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.452+5772A>T",
"hgvs_p": null,
"transcript": "XM_047416883.1",
"protein_id": "XP_047272839.1",
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"biotype": "protein_coding",
"feature": "XM_047416883.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTS19",
"gene_hgnc_id": 17111,
"hgvs_c": "c.134+5772A>T",
"hgvs_p": null,
"transcript": "XM_011543249.3",
"protein_id": "XP_011541551.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "XM_011543249.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHSY3-AS1",
"gene_hgnc_id": 58253,
"hgvs_c": "n.405-101849T>A",
"hgvs_p": null,
"transcript": "ENST00000503616.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503616.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHSY3-AS1",
"gene_hgnc_id": 58253,
"hgvs_c": "n.433-3350T>A",
"hgvs_p": null,
"transcript": "ENST00000653455.2",
"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": "ENST00000653455.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 19,
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"gene_symbol": "ADAMTS19",
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"hgvs_c": "n.916+5772A>T",
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"transcript": "XR_007058587.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058587.1"
}
],
"gene_symbol": "ADAMTS19",
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"dbsnp": "rs1476083",
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"hom_count_reference_population": 26936,
"allele_count_reference_population": 87849,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.577855,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 87849,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 26936,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.918,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_133638.6",
"gene_symbol": "ADAMTS19",
"hgnc_id": 17111,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1478+5772A>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000503616.5",
"gene_symbol": "CHSY3-AS1",
"hgnc_id": 58253,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.405-101849T>A",
"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
}