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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: 17-75628304-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75628304&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75628304,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004259.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Ala907Ser",
"transcript": "NM_004259.7",
"protein_id": "NP_004250.4",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 991,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317905.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004259.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Ala907Ser",
"transcript": "ENST00000317905.10",
"protein_id": "ENSP00000317636.5",
"transcript_support_level": 1,
"aa_start": 907,
"aa_end": null,
"aa_length": 991,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004259.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317905.10"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2638G>T",
"hgvs_p": "p.Ala880Ser",
"transcript": "ENST00000423245.6",
"protein_id": "ENSP00000394820.2",
"transcript_support_level": 1,
"aa_start": 880,
"aa_end": null,
"aa_length": 964,
"cds_start": 2638,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423245.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "n.2255G>T",
"hgvs_p": null,
"transcript": "ENST00000443199.6",
"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": "ENST00000443199.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "n.342G>T",
"hgvs_p": null,
"transcript": "ENST00000578865.5",
"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": "ENST00000578865.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Ala907Ser",
"transcript": "ENST00000919295.1",
"protein_id": "ENSP00000589354.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 991,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919295.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Ala907Ser",
"transcript": "ENST00000919296.1",
"protein_id": "ENSP00000589355.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 991,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919296.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Ala907Ser",
"transcript": "ENST00000941132.1",
"protein_id": "ENSP00000611191.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 990,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941132.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2665G>T",
"hgvs_p": "p.Ala889Ser",
"transcript": "ENST00000910739.1",
"protein_id": "ENSP00000580798.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 973,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910739.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2584G>T",
"hgvs_p": "p.Ala862Ser",
"transcript": "ENST00000941133.1",
"protein_id": "ENSP00000611192.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 946,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941133.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2383G>T",
"hgvs_p": "p.Ala795Ser",
"transcript": "ENST00000919294.1",
"protein_id": "ENSP00000589353.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 879,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919294.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2320G>T",
"hgvs_p": "p.Ala774Ser",
"transcript": "ENST00000910741.1",
"protein_id": "ENSP00000580800.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 858,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910741.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1921G>T",
"hgvs_p": "p.Ala641Ser",
"transcript": "ENST00000910740.1",
"protein_id": "ENSP00000580799.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 725,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910740.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.391G>T",
"hgvs_p": "p.Ala131Ser",
"transcript": "ENST00000581825.1",
"protein_id": "ENSP00000462678.1",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 205,
"cds_start": 391,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581825.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2782G>T",
"hgvs_p": "p.Ala928Ser",
"transcript": "XM_005257818.5",
"protein_id": "XP_005257875.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257818.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Ala907Ser",
"transcript": "XM_047437085.1",
"protein_id": "XP_047293041.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 991,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437085.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1645G>T",
"hgvs_p": "p.Ala549Ser",
"transcript": "XM_047437086.1",
"protein_id": "XP_047293042.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 633,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437086.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1645G>T",
"hgvs_p": "p.Ala549Ser",
"transcript": "XM_047437087.1",
"protein_id": "XP_047293043.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 633,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437087.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1600G>T",
"hgvs_p": "p.Ala534Ser",
"transcript": "XM_011525484.2",
"protein_id": "XP_011523786.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 618,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525484.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1582G>T",
"hgvs_p": "p.Ala528Ser",
"transcript": "XM_011525485.3",
"protein_id": "XP_011523787.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 612,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525485.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1582G>T",
"hgvs_p": "p.Ala528Ser",
"transcript": "XM_047437088.1",
"protein_id": "XP_047293044.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 612,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437088.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Ala523Ser",
"transcript": "XM_006722186.2",
"protein_id": "XP_006722249.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 607,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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}
],
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}