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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: 10-98388419-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98388419&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98388419,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000370575.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1382T>G",
"hgvs_p": "p.Met461Arg",
"transcript": "NM_032709.3",
"protein_id": "NP_116098.2",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 581,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": "ENST00000370575.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1382T>G",
"hgvs_p": "p.Met461Arg",
"transcript": "ENST00000370575.5",
"protein_id": "ENSP00000359607.4",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 581,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": "NM_032709.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "n.2334-1112T>G",
"hgvs_p": null,
"transcript": "ENST00000483923.5",
"protein_id": null,
"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": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1598T>G",
"hgvs_p": "p.Met533Arg",
"transcript": "XM_047425881.1",
"protein_id": "XP_047281837.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 653,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 3106,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1496T>G",
"hgvs_p": "p.Met499Arg",
"transcript": "XM_047425882.1",
"protein_id": "XP_047281838.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 619,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1484T>G",
"hgvs_p": "p.Met495Arg",
"transcript": "XM_011540293.3",
"protein_id": "XP_011538595.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 615,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1496T>G",
"hgvs_p": "p.Met499Arg",
"transcript": "XM_047425883.1",
"protein_id": "XP_047281839.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 598,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1484T>G",
"hgvs_p": "p.Met495Arg",
"transcript": "XM_047425884.1",
"protein_id": "XP_047281840.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 594,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1496T>G",
"hgvs_p": "p.Met499Arg",
"transcript": "XM_047425885.1",
"protein_id": "XP_047281841.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 566,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1484T>G",
"hgvs_p": "p.Met495Arg",
"transcript": "XM_047425886.1",
"protein_id": "XP_047281842.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 562,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1382T>G",
"hgvs_p": "p.Met461Arg",
"transcript": "XM_017016835.2",
"protein_id": "XP_016872324.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 560,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1133T>G",
"hgvs_p": "p.Met378Arg",
"transcript": "XM_047425887.1",
"protein_id": "XP_047281843.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 498,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 3656,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1133T>G",
"hgvs_p": "p.Met378Arg",
"transcript": "XM_047425888.1",
"protein_id": "XP_047281844.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 498,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1019T>G",
"hgvs_p": "p.Met340Arg",
"transcript": "XM_017016839.3",
"protein_id": "XP_016872328.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 460,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1019T>G",
"hgvs_p": "p.Met340Arg",
"transcript": "XM_017016840.2",
"protein_id": "XP_016872329.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 460,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1019T>G",
"hgvs_p": "p.Met340Arg",
"transcript": "XM_017016841.2",
"protein_id": "XP_016872330.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 460,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.626T>G",
"hgvs_p": "p.Met209Arg",
"transcript": "XM_047425891.1",
"protein_id": "XP_047281847.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 329,
"cds_start": 626,
"cds_end": null,
"cds_length": 990,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.575T>G",
"hgvs_p": "p.Met192Arg",
"transcript": "XM_011540301.3",
"protein_id": "XP_011538603.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 312,
"cds_start": 575,
"cds_end": null,
"cds_length": 939,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2898,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "n.18T>G",
"hgvs_p": null,
"transcript": "ENST00000464808.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 410,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "n.2992T>G",
"hgvs_p": null,
"transcript": "XR_007062008.1",
"protein_id": null,
"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": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1395-1112T>G",
"hgvs_p": null,
"transcript": "XM_047425890.1",
"protein_id": "XP_047281846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "n.2903-335T>G",
"hgvs_p": null,
"transcript": "XR_007062009.1",
"protein_id": null,
"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": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.*1394T>G",
"hgvs_p": null,
"transcript": "XM_047425889.1",
"protein_id": "XP_047281845.1",
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000370575.5",
"gene_symbol": "PYROXD2",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.1382T>G",
"hgvs_p": "p.Met461Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}