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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: 12-109793930-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109793930&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109793930,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_021625.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Asn528Asn",
"transcript": "NM_021625.5",
"protein_id": "NP_067638.3",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 871,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261740.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021625.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Asn528Asn",
"transcript": "ENST00000261740.7",
"protein_id": "ENSP00000261740.2",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 871,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021625.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261740.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Asn528Asn",
"transcript": "ENST00000418703.7",
"protein_id": "ENSP00000406191.2",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 871,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418703.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Asn494Asn",
"transcript": "ENST00000536838.1",
"protein_id": "ENSP00000444336.1",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 837,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536838.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Asn481Asn",
"transcript": "ENST00000541794.5",
"protein_id": "ENSP00000442167.1",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 824,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541794.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1404C>T",
"hgvs_p": "p.Asn468Asn",
"transcript": "ENST00000537083.5",
"protein_id": "ENSP00000442738.1",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 811,
"cds_start": 1404,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537083.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1263C>T",
"hgvs_p": "p.Asn421Asn",
"transcript": "ENST00000544971.5",
"protein_id": "ENSP00000443611.1",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 764,
"cds_start": 1263,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.1584C>T",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000538125.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Asn528Asn",
"transcript": "ENST00000675670.1",
"protein_id": "ENSP00000502135.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 871,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675670.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Asn528Asn",
"transcript": "ENST00000909280.1",
"protein_id": "ENSP00000579339.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 871,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909280.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Asn528Asn",
"transcript": "ENST00000909281.1",
"protein_id": "ENSP00000579340.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 871,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909281.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Asn494Asn",
"transcript": "NM_001177431.1",
"protein_id": "NP_001170902.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 837,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177431.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Asn481Asn",
"transcript": "NM_001177428.1",
"protein_id": "NP_001170899.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 824,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177428.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1404C>T",
"hgvs_p": "p.Asn468Asn",
"transcript": "NM_147204.2",
"protein_id": "NP_671737.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 811,
"cds_start": 1404,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147204.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1263C>T",
"hgvs_p": "p.Asn421Asn",
"transcript": "NM_001177433.1",
"protein_id": "NP_001170904.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 764,
"cds_start": 1263,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177433.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1737C>T",
"hgvs_p": "p.Asn579Asn",
"transcript": "XM_011538630.3",
"protein_id": "XP_011536932.2",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 922,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538630.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1596C>T",
"hgvs_p": "p.Asn532Asn",
"transcript": "XM_011538631.3",
"protein_id": "XP_011536933.2",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 875,
"cds_start": 1596,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538631.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Asn528Asn",
"transcript": "XM_017019774.2",
"protein_id": "XP_016875263.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 871,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019774.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1557C>T",
"hgvs_p": "p.Asn519Asn",
"transcript": "XM_011538632.3",
"protein_id": "XP_011536934.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 862,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538632.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Asn481Asn",
"transcript": "XM_047429293.1",
"protein_id": "XP_047285249.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 824,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429293.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1416C>T",
"hgvs_p": "p.Asn472Asn",
"transcript": "XM_011538633.3",
"protein_id": "XP_011536935.2",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 815,
"cds_start": 1416,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538633.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
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"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000650436868244502,
"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
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"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_021625.5",
"gene_symbol": "TRPV4",
"hgnc_id": 18083,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.1584C>T",
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}
],
"clinvar_disease": " Kozlowski type, autosomal dominant 8, distal hereditary motor,Brachyrachia (short spine dysplasia),Charcot-Marie-Tooth disease axonal type 2C,Inborn genetic diseases,Metatropic dysplasia,Neuronopathy,Scapuloperoneal spinal muscular atrophy,Spondylometaphyseal dysplasia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:6 B:1",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy|Metatropic dysplasia|Brachyrachia (short spine dysplasia)|Spondylometaphyseal dysplasia, Kozlowski type|not provided|Neuronopathy, distal hereditary motor, autosomal dominant 8|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}