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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: 2-100977729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=100977729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 100977729,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000335681.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "NM_002518.4",
"protein_id": "NP_002509.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 824,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": "ENST00000335681.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "ENST00000335681.10",
"protein_id": "ENSP00000338283.5",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 824,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": "NM_002518.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "n.746C>T",
"hgvs_p": null,
"transcript": "ENST00000474550.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 7983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Ser70Leu",
"transcript": "ENST00000450763.1",
"protein_id": "ENSP00000392125.1",
"transcript_support_level": 4,
"aa_start": 70,
"aa_end": null,
"aa_length": 201,
"cds_start": 209,
"cds_end": null,
"cds_length": 607,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Ser501Leu",
"transcript": "XM_047444503.1",
"protein_id": "XP_047300459.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 854,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Ser485Leu",
"transcript": "XM_047444504.1",
"protein_id": "XP_047300460.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 838,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 23904,
"cdna_end": null,
"cdna_length": 26214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_005263953.3",
"protein_id": "XP_005264010.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 824,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_047444505.1",
"protein_id": "XP_047300461.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 824,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_047444506.1",
"protein_id": "XP_047300462.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 824,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Ser441Leu",
"transcript": "XM_011511242.3",
"protein_id": "XP_011509544.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 794,
"cds_start": 1322,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Ser441Leu",
"transcript": "XM_047444502.1",
"protein_id": "XP_047300458.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 794,
"cds_start": 1322,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_017004214.2",
"protein_id": "XP_016859703.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 778,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_005263959.3",
"protein_id": "XP_005264016.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 770,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_047444510.1",
"protein_id": "XP_047300466.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 770,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Ser441Leu",
"transcript": "XM_047444511.1",
"protein_id": "XP_047300467.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 740,
"cds_start": 1322,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_017004216.2",
"protein_id": "XP_016859705.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 724,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ser471Leu",
"transcript": "XM_047444513.1",
"protein_id": "XP_047300469.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 724,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Ser368Leu",
"transcript": "XM_005263960.3",
"protein_id": "XP_005264017.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 721,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Ser368Leu",
"transcript": "XM_047444515.1",
"protein_id": "XP_047300471.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 721,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Leu",
"transcript": "XM_005263961.5",
"protein_id": "XP_005264018.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 700,
"cds_start": 1040,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Ser368Leu",
"transcript": "XM_017004217.2",
"protein_id": "XP_016859706.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 667,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Ser368Leu",
"transcript": "XM_047444512.1",
"protein_id": "XP_047300468.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 667,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
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"BA1"
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"verdict": "Benign",
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{
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],
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"custom_annotations": null
}
],
"message": null
}