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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: 17-54949575-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=54949575&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 54949575,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005486.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "NM_005486.3",
"protein_id": "NP_005477.2",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 476,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "ENST00000575882.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005486.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "ENST00000575882.6",
"protein_id": "ENSP00000460823.1",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 476,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "NM_005486.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575882.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "ENST00000851795.1",
"protein_id": "ENSP00000521854.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 508,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851795.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "ENST00000851789.1",
"protein_id": "ENSP00000521848.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 476,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851789.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "ENST00000851790.1",
"protein_id": "ENSP00000521849.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 476,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851790.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "ENST00000940214.1",
"protein_id": "ENSP00000610273.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 476,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940214.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Ala407Pro",
"transcript": "ENST00000572158.5",
"protein_id": "ENSP00000461284.1",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 469,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572158.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Ala407Pro",
"transcript": "ENST00000964388.1",
"protein_id": "ENSP00000634447.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 469,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964388.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "ENST00000445275.6",
"protein_id": "ENSP00000408958.2",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 465,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445275.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "ENST00000851792.1",
"protein_id": "ENSP00000521851.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 465,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851792.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "ENST00000964387.1",
"protein_id": "ENSP00000634446.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 465,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964387.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1186G>C",
"hgvs_p": "p.Ala396Pro",
"transcript": "ENST00000851793.1",
"protein_id": "ENSP00000521852.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 458,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851793.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1129G>C",
"hgvs_p": "p.Ala377Pro",
"transcript": "ENST00000964386.1",
"protein_id": "ENSP00000634445.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 439,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964386.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "NM_001321174.2",
"protein_id": "NP_001308103.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 399,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321174.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "NM_001321175.2",
"protein_id": "NP_001308104.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 399,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321175.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "NM_001321176.2",
"protein_id": "NP_001308105.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 399,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321176.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000348161.8",
"protein_id": "ENSP00000343901.4",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 399,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348161.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000536554.5",
"protein_id": "ENSP00000443099.1",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 399,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536554.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Ala248Pro",
"transcript": "ENST00000851787.1",
"protein_id": "ENSP00000521846.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 310,
"cds_start": 742,
"cds_end": null,
"cds_length": 933,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851787.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Ala248Pro",
"transcript": "ENST00000940215.1",
"protein_id": "ENSP00000610274.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 310,
"cds_start": 742,
"cds_end": null,
"cds_length": 933,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940215.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.280G>C",
"hgvs_p": "p.Ala94Pro",
"transcript": "ENST00000851794.1",
"protein_id": "ENSP00000521853.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 156,
"cds_start": 280,
"cds_end": null,
"cds_length": 471,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851794.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.265G>C",
"hgvs_p": "p.Ala89Pro",
"transcript": "ENST00000851796.1",
"protein_id": "ENSP00000521855.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 151,
"cds_start": 265,
"cds_end": null,
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -8,
"acmg_classification": "Benign",
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{
"score": -8,
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"criteria": [
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"BS2"
],
"verdict": "Benign",
"transcript": "NM_005486.3",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}