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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: 11-118533019-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118533019&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118533019,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032780.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "NM_032780.4",
"protein_id": "NP_116169.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 366,
"cds_start": 485,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": "ENST00000313236.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "ENST00000313236.10",
"protein_id": "ENSP00000315635.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 366,
"cds_start": 485,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": "NM_032780.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "ENST00000533102.5",
"protein_id": "ENSP00000431548.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 381,
"cds_start": 485,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "ENST00000359862.8",
"protein_id": "ENSP00000352924.4",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 322,
"cds_start": 485,
"cds_end": null,
"cds_length": 969,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "NM_001318755.2",
"protein_id": "NP_001305684.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 381,
"cds_start": 485,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "NM_001144037.2",
"protein_id": "NP_001137509.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 351,
"cds_start": 485,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "ENST00000354284.8",
"protein_id": "ENSP00000346237.4",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 351,
"cds_start": 485,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "NM_001144034.2",
"protein_id": "NP_001137506.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 322,
"cds_start": 485,
"cds_end": null,
"cds_length": 969,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "NM_001144035.2",
"protein_id": "NP_001137507.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 322,
"cds_start": 485,
"cds_end": null,
"cds_length": 969,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "ENST00000411589.6",
"protein_id": "ENSP00000411882.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 322,
"cds_start": 485,
"cds_end": null,
"cds_length": 969,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "ENST00000524725.5",
"protein_id": "ENSP00000431205.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 322,
"cds_start": 485,
"cds_end": null,
"cds_length": 969,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "NM_001144038.2",
"protein_id": "NP_001137510.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 306,
"cds_start": 485,
"cds_end": null,
"cds_length": 921,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "ENST00000442938.6",
"protein_id": "ENSP00000416071.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 306,
"cds_start": 485,
"cds_end": null,
"cds_length": 921,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Asn58Ser",
"transcript": "NM_001144036.2",
"protein_id": "NP_001137508.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 218,
"cds_start": 173,
"cds_end": null,
"cds_length": 657,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Asn58Ser",
"transcript": "ENST00000354064.11",
"protein_id": "ENSP00000278959.8",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 218,
"cds_start": 173,
"cds_end": null,
"cds_length": 657,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Asn45Ser",
"transcript": "ENST00000526973.5",
"protein_id": "ENSP00000433059.1",
"transcript_support_level": 4,
"aa_start": 45,
"aa_end": null,
"aa_length": 192,
"cds_start": 134,
"cds_end": null,
"cds_length": 581,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Asn130Ser",
"transcript": "ENST00000533137.5",
"protein_id": "ENSP00000433938.1",
"transcript_support_level": 4,
"aa_start": 130,
"aa_end": null,
"aa_length": 169,
"cds_start": 389,
"cds_end": null,
"cds_length": 510,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_005271703.2",
"protein_id": "XP_005271760.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 382,
"cds_start": 485,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_006718926.3",
"protein_id": "XP_006718989.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 382,
"cds_start": 485,
"cds_end": null,
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"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_047427720.1",
"protein_id": "XP_047283676.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 382,
"cds_start": 485,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_017018422.3",
"protein_id": "XP_016873911.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 366,
"cds_start": 485,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_047427721.1",
"protein_id": "XP_047283677.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 366,
"cds_start": 485,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_047427722.1",
"protein_id": "XP_047283678.1",
"transcript_support_level": null,
"aa_start": 162,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032780.4",
"gene_symbol": "TMEM25",
"hgnc_id": 25890,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser"
}
],
"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
}