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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: 3-124796426-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124796426&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124796426,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002213.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "NM_002213.5",
"protein_id": "NP_002204.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 799,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296181.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002213.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "ENST00000296181.9",
"protein_id": "ENSP00000296181.4",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 799,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296181.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Asn626Ser",
"transcript": "ENST00000905025.1",
"protein_id": "ENSP00000575084.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 873,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905025.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000965613.1",
"protein_id": "ENSP00000635672.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 837,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965613.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Asn567Ser",
"transcript": "ENST00000965616.1",
"protein_id": "ENSP00000635675.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 814,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965616.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1652A>G",
"hgvs_p": "p.Asn551Ser",
"transcript": "ENST00000935896.1",
"protein_id": "ENSP00000605955.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 798,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935896.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "ENST00000935903.1",
"protein_id": "ENSP00000605962.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 797,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935903.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Asn550Ser",
"transcript": "ENST00000965615.1",
"protein_id": "ENSP00000635674.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 797,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965615.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Asn544Ser",
"transcript": "ENST00000935905.1",
"protein_id": "ENSP00000605964.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 791,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935905.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1559A>G",
"hgvs_p": "p.Asn520Ser",
"transcript": "ENST00000935898.1",
"protein_id": "ENSP00000605957.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 767,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935898.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "ENST00000965612.1",
"protein_id": "ENSP00000635671.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 759,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965612.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1493A>G",
"hgvs_p": "p.Asn498Ser",
"transcript": "ENST00000935909.1",
"protein_id": "ENSP00000605968.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 745,
"cds_start": 1493,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935909.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Asn496Ser",
"transcript": "ENST00000935906.1",
"protein_id": "ENSP00000605965.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 743,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935906.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "ENST00000905026.1",
"protein_id": "ENSP00000575085.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 737,
"cds_start": 1469,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905026.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1430A>G",
"hgvs_p": "p.Asn477Ser",
"transcript": "ENST00000935895.1",
"protein_id": "ENSP00000605954.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 724,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935895.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "ENST00000965617.1",
"protein_id": "ENSP00000635676.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 724,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965617.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1424A>G",
"hgvs_p": "p.Asn475Ser",
"transcript": "ENST00000935908.1",
"protein_id": "ENSP00000605967.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 722,
"cds_start": 1424,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935908.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Asn466Ser",
"transcript": "ENST00000965614.1",
"protein_id": "ENSP00000635673.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 713,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965614.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Asn455Ser",
"transcript": "ENST00000935902.1",
"protein_id": "ENSP00000605961.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 702,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935902.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1334A>G",
"hgvs_p": "p.Asn445Ser",
"transcript": "ENST00000935900.1",
"protein_id": "ENSP00000605959.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 692,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935900.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1331A>G",
"hgvs_p": "p.Asn444Ser",
"transcript": "NM_001354764.2",
"protein_id": "NP_001341693.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 691,
"cds_start": 1331,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354764.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1331A>G",
"hgvs_p": "p.Asn444Ser",
"transcript": "NM_001354765.1",
"protein_id": "NP_001341694.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 691,
"cds_start": 1331,
"cds_end": null,
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{
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{
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}