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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: 7-151077633-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151077633&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151077633,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006712.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "NM_006712.5",
"protein_id": "NP_006703.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 549,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297532.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006712.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "ENST00000297532.11",
"protein_id": "ENSP00000297532.6",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 549,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006712.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297532.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000482571.2",
"protein_id": "ENSP00000418516.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 522,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482571.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "ENST00000353841.6",
"protein_id": "ENSP00000324817.6",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 408,
"cds_start": 764,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353841.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.2157G>A",
"hgvs_p": null,
"transcript": "ENST00000467237.5",
"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": "ENST00000467237.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.1187G>A",
"hgvs_p": null,
"transcript": "ENST00000489884.5",
"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": "pseudogene",
"feature": "ENST00000489884.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427His",
"transcript": "ENST00000899746.1",
"protein_id": "ENSP00000569805.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 580,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899746.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "ENST00000899741.1",
"protein_id": "ENSP00000569800.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 557,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899741.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398His",
"transcript": "ENST00000899743.1",
"protein_id": "ENSP00000569802.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 551,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899743.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "ENST00000899744.1",
"protein_id": "ENSP00000569803.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 547,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899744.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "ENST00000899747.1",
"protein_id": "ENSP00000569806.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 530,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899747.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000899750.1",
"protein_id": "ENSP00000569809.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 530,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899750.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "NM_001258461.2",
"protein_id": "NP_001245390.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 522,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258461.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000959426.1",
"protein_id": "ENSP00000629485.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 503,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959426.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336His",
"transcript": "ENST00000899751.1",
"protein_id": "ENSP00000569810.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 489,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899751.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336His",
"transcript": "ENST00000959430.1",
"protein_id": "ENSP00000629489.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 487,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959430.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His",
"transcript": "ENST00000899749.1",
"protein_id": "ENSP00000569808.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 486,
"cds_start": 998,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899749.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "ENST00000959427.1",
"protein_id": "ENSP00000629486.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 473,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959427.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "ENST00000959428.1",
"protein_id": "ENSP00000629487.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 471,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959428.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"transcript": "ENST00000959429.1",
"protein_id": "ENSP00000629488.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 439,
"cds_start": 857,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959429.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000899745.1",
"protein_id": "ENSP00000569804.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 410,
"cds_start": 770,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899745.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "NM_033015.4",
"protein_id": "NP_148936.2",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 408,
"cds_start": 764,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"feature": "NM_033015.4"
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{
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],
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}