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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: 19-41433392-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41433392&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41433392,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000221943.14",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Cys159Tyr",
"transcript": "NM_018035.3",
"protein_id": "NP_060505.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 257,
"cds_start": 476,
"cds_end": null,
"cds_length": 774,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": "ENST00000221943.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Cys159Tyr",
"transcript": "ENST00000221943.14",
"protein_id": "ENSP00000221943.8",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 257,
"cds_start": 476,
"cds_end": null,
"cds_length": 774,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": "NM_018035.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.352+145G>A",
"hgvs_p": null,
"transcript": "ENST00000438807.7",
"protein_id": "ENSP00000397413.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Cys165Tyr",
"transcript": "NM_001167867.2",
"protein_id": "NP_001161339.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 263,
"cds_start": 494,
"cds_end": null,
"cds_length": 792,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Cys165Tyr",
"transcript": "ENST00000417807.7",
"protein_id": "ENSP00000403910.2",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 263,
"cds_start": 494,
"cds_end": null,
"cds_length": 792,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Cys138Tyr",
"transcript": "NM_001320840.2",
"protein_id": "NP_001307769.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 236,
"cds_start": 413,
"cds_end": null,
"cds_length": 711,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Cys132Tyr",
"transcript": "NM_001167871.2",
"protein_id": "NP_001161343.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 230,
"cds_start": 395,
"cds_end": null,
"cds_length": 693,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Cys132Tyr",
"transcript": "ENST00000592922.6",
"protein_id": "ENSP00000467205.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 230,
"cds_start": 395,
"cds_end": null,
"cds_length": 693,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Cys138Tyr",
"transcript": "NM_001320839.2",
"protein_id": "NP_001307768.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 178,
"cds_start": 413,
"cds_end": null,
"cds_length": 537,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Cys138Tyr",
"transcript": "ENST00000590641.6",
"protein_id": "ENSP00000468059.1",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 178,
"cds_start": 413,
"cds_end": null,
"cds_length": 537,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.422G>A",
"hgvs_p": "p.Cys141Tyr",
"transcript": "ENST00000589102.1",
"protein_id": "ENSP00000464907.1",
"transcript_support_level": 4,
"aa_start": 141,
"aa_end": null,
"aa_length": 175,
"cds_start": 422,
"cds_end": null,
"cds_length": 530,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Cys132Tyr",
"transcript": "NM_001320844.2",
"protein_id": "NP_001307773.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 172,
"cds_start": 395,
"cds_end": null,
"cds_length": 519,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Cys132Tyr",
"transcript": "ENST00000595425.5",
"protein_id": "ENSP00000470444.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 172,
"cds_start": 395,
"cds_end": null,
"cds_length": 519,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Cys76Tyr",
"transcript": "ENST00000594660.5",
"protein_id": "ENSP00000470684.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 149,
"cds_start": 227,
"cds_end": null,
"cds_length": 450,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.244G>A",
"hgvs_p": null,
"transcript": "ENST00000589503.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"transcript": "ENST00000594339.1",
"protein_id": "ENSP00000468966.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.472G>A",
"hgvs_p": null,
"transcript": "NR_030765.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.486G>A",
"hgvs_p": null,
"transcript": "NR_135477.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.503G>A",
"hgvs_p": null,
"transcript": "NR_135478.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"transcript": "ENST00000594339.1",
"protein_id": "ENSP00000468966.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.451+145G>A",
"hgvs_p": null,
"transcript": "NM_001167868.2",
"protein_id": "NP_001161340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.451+145G>A",
"hgvs_p": null,
"transcript": "ENST00000301183.15",
"protein_id": "ENSP00000301183.9",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.433+145G>A",
"hgvs_p": null,
"transcript": "NM_001167869.2",
"protein_id": "NP_001161341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
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}