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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: 14-91170188-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91170188&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 91170188,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000256324.15",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "NM_001102368.3",
"protein_id": "NP_001095838.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": "ENST00000256324.15",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000256324.15",
"protein_id": "ENSP00000256324.9",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": "NM_001102368.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000521077.6",
"protein_id": "ENSP00000430137.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 581,
"cds_start": 443,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000517518.5",
"protein_id": "ENSP00000428652.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 430,
"cds_start": 443,
"cds_end": null,
"cds_length": 1295,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000523894.5",
"protein_id": "ENSP00000429459.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 151,
"cds_start": 443,
"cds_end": null,
"cds_length": 456,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "n.146C>A",
"hgvs_p": null,
"transcript": "ENST00000517306.5",
"protein_id": "ENSP00000428760.1",
"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": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.441+2C>A",
"hgvs_p": null,
"transcript": "ENST00000522322.5",
"protein_id": "ENSP00000427953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.441+2C>A",
"hgvs_p": null,
"transcript": "ENST00000523771.5",
"protein_id": "ENSP00000429655.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.441+2C>A",
"hgvs_p": null,
"transcript": "ENST00000523816.5",
"protein_id": "ENSP00000428974.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "n.257+2810C>A",
"hgvs_p": null,
"transcript": "ENST00000519994.5",
"protein_id": "ENSP00000429967.1",
"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": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "NM_001286470.2",
"protein_id": "NP_001273399.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "NM_001358310.2",
"protein_id": "NP_001345239.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "NM_001358312.2",
"protein_id": "NP_001345241.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000412671.6",
"protein_id": "ENSP00000404196.2",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000518868.5",
"protein_id": "ENSP00000428263.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "NM_001286472.2",
"protein_id": "NP_001273401.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 581,
"cds_start": 443,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000525393.6",
"protein_id": "ENSP00000435459.3",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 581,
"cds_start": 443,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000522170.5",
"protein_id": "ENSP00000430666.1",
"transcript_support_level": 3,
"aa_start": 148,
"aa_end": null,
"aa_length": 201,
"cds_start": 443,
"cds_end": null,
"cds_length": 607,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000519950.5",
"protein_id": "ENSP00000428296.1",
"transcript_support_level": 3,
"aa_start": 148,
"aa_end": null,
"aa_length": 200,
"cds_start": 443,
"cds_end": null,
"cds_length": 604,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Ala148Glu",
"transcript": "ENST00000521334.5",
"protein_id": "ENSP00000430022.1",
"transcript_support_level": 3,
"aa_start": 148,
"aa_end": null,
"aa_length": 151,
"cds_start": 443,
"cds_end": null,
"cds_length": 456,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 909,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "n.395C>A",
"hgvs_p": null,
"transcript": "ENST00000523461.5",
"protein_id": "ENSP00000428444.1",
"transcript_support_level": 2,
"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": 2435,
"mane_select": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000523837.5",
"protein_id": "ENSP00000429052.1",
"transcript_support_level": 5,
"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": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000523837.5",
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}
],
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}