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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: 1-108898677-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108898677&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 108898677,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013296.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "NM_013296.5",
"protein_id": "NP_037428.3",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "ENST00000264126.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013296.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000264126.9",
"protein_id": "ENSP00000264126.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "NM_013296.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264126.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"transcript": "ENST00000674914.1",
"protein_id": "ENSP00000501579.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 701,
"cds_start": 644,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674914.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"transcript": "ENST00000675087.1",
"protein_id": "ENSP00000502020.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 701,
"cds_start": 644,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675087.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "NM_001321038.2",
"protein_id": "NP_001307967.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321038.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "NM_001321039.3",
"protein_id": "NP_001307968.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321039.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000406462.6",
"protein_id": "ENSP00000385510.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406462.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000446797.2",
"protein_id": "ENSP00000392138.2",
"transcript_support_level": 4,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446797.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000642355.1",
"protein_id": "ENSP00000496104.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642355.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000645164.2",
"protein_id": "ENSP00000496756.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645164.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000676184.1",
"protein_id": "ENSP00000502178.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676184.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000876528.1",
"protein_id": "ENSP00000546587.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876528.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000876530.1",
"protein_id": "ENSP00000546589.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876530.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000876531.1",
"protein_id": "ENSP00000546590.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876531.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000876532.1",
"protein_id": "ENSP00000546591.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876532.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000876533.1",
"protein_id": "ENSP00000546592.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876533.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000942318.1",
"protein_id": "ENSP00000612377.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942318.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000942319.1",
"protein_id": "ENSP00000612378.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
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"cdna_start": 1483,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942319.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000942320.1",
"protein_id": "ENSP00000612379.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942320.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000942321.1",
"protein_id": "ENSP00000612380.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942321.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000942322.1",
"protein_id": "ENSP00000612381.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
"cds_start": 593,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942322.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro",
"transcript": "ENST00000942323.1",
"protein_id": "ENSP00000612382.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 684,
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"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013296.5",
"gene_symbol": "GPSM2",
"hgnc_id": 29501,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Arg198Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357393.6",
"gene_symbol": "AKNAD1",
"hgnc_id": 28398,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1-49101C>G",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000690509.1",
"gene_symbol": "CLCC1",
"hgnc_id": 29675,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*46-16429C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}