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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: 17-45030159-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45030159&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45030159,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651974.1",
"consequences": [
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "NM_001288655.2",
"protein_id": "NP_001275584.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": "ENST00000651974.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000651974.1",
"protein_id": "ENSP00000498268.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": "NM_001288655.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000342350.10",
"protein_id": "ENSP00000341504.4",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000452796.7",
"protein_id": "ENSP00000413483.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "NM_001128631.3",
"protein_id": "NP_001122103.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "NM_001288654.2",
"protein_id": "NP_001275583.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "NM_001321326.2",
"protein_id": "NP_001308255.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "NM_024819.7",
"protein_id": "NP_079095.3",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000310604.9",
"protein_id": "ENSP00000308515.5",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000588499.6",
"protein_id": "ENSP00000467913.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000684999.1",
"protein_id": "ENSP00000510563.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000687525.1",
"protein_id": "ENSP00000509864.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000687739.1",
"protein_id": "ENSP00000510018.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000688897.1",
"protein_id": "ENSP00000509802.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
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"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000692009.1",
"protein_id": "ENSP00000509683.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000692180.1",
"protein_id": "ENSP00000510227.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
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"cds_start": 337,
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"cdna_start": 883,
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"cdna_length": 2019,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000693065.1",
"protein_id": "ENSP00000509729.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.476G>T",
"hgvs_p": "p.Gly159Val",
"transcript": "ENST00000614054.5",
"protein_id": "ENSP00000478909.2",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 164,
"cds_start": 476,
"cds_end": null,
"cds_length": 495,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000686754.1",
"protein_id": "ENSP00000510394.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 134,
"cds_start": 337,
"cds_end": null,
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"cdna_start": 514,
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"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "XM_011525262.3",
"protein_id": "XP_011523564.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 231,
"cds_start": 337,
"cds_end": null,
"cds_length": 696,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2181,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "n.*185G>T",
"hgvs_p": null,
"transcript": "ENST00000684937.1",
"protein_id": "ENSP00000510351.1",
"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": 765,
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "n.*46G>T",
"hgvs_p": null,
"transcript": "ENST00000687463.1",
"protein_id": "ENSP00000510527.1",
"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": 940,
"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": "DCAKD",
"gene_hgnc_id": 26238,
"hgvs_c": "n.*46G>T",
"hgvs_p": null,
"transcript": "ENST00000687955.1",
"protein_id": "ENSP00000509609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}