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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: 4-83461030-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83461030&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 83461030,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016067.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.350T>C",
"hgvs_p": "p.Met117Thr",
"transcript": "NM_016067.4",
"protein_id": "NP_057151.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 142,
"cds_start": 350,
"cds_end": null,
"cds_length": 429,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": "ENST00000295491.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016067.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.350T>C",
"hgvs_p": "p.Met117Thr",
"transcript": "ENST00000295491.9",
"protein_id": "ENSP00000295491.4",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 142,
"cds_start": 350,
"cds_end": null,
"cds_length": 429,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": "NM_016067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295491.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1439A>G",
"hgvs_p": null,
"transcript": "NM_139076.3",
"protein_id": "NP_620775.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "ENST00000321945.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139076.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1439A>G",
"hgvs_p": null,
"transcript": "ENST00000321945.12",
"protein_id": "ENSP00000369857.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "NM_139076.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321945.12"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.365T>C",
"hgvs_p": "p.Met122Thr",
"transcript": "ENST00000857157.1",
"protein_id": "ENSP00000527216.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 147,
"cds_start": 365,
"cds_end": null,
"cds_length": 444,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857157.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.350T>C",
"hgvs_p": "p.Met117Thr",
"transcript": "ENST00000857155.1",
"protein_id": "ENSP00000527214.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 142,
"cds_start": 350,
"cds_end": null,
"cds_length": 429,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857155.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.350T>C",
"hgvs_p": "p.Met117Thr",
"transcript": "ENST00000857156.1",
"protein_id": "ENSP00000527215.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 142,
"cds_start": 350,
"cds_end": null,
"cds_length": 429,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857156.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000857158.1",
"protein_id": "ENSP00000527217.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 138,
"cds_start": 338,
"cds_end": null,
"cds_length": 417,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857158.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.350T>C",
"hgvs_p": "p.Met117Thr",
"transcript": "ENST00000917303.1",
"protein_id": "ENSP00000587362.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 138,
"cds_start": 350,
"cds_end": null,
"cds_length": 417,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917303.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Met94Thr",
"transcript": "ENST00000917305.1",
"protein_id": "ENSP00000587364.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 119,
"cds_start": 281,
"cds_end": null,
"cds_length": 360,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917305.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Met89Thr",
"transcript": "NM_001297767.2",
"protein_id": "NP_001284696.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 114,
"cds_start": 266,
"cds_end": null,
"cds_length": 345,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297767.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Met89Thr",
"transcript": "ENST00000507019.5",
"protein_id": "ENSP00000427169.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 114,
"cds_start": 266,
"cds_end": null,
"cds_length": 345,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507019.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Met87Thr",
"transcript": "ENST00000509970.5",
"protein_id": "ENSP00000427014.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 112,
"cds_start": 260,
"cds_end": null,
"cds_length": 339,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509970.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Met86Thr",
"transcript": "ENST00000917308.1",
"protein_id": "ENSP00000587367.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 111,
"cds_start": 257,
"cds_end": null,
"cds_length": 336,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917308.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Met89Thr",
"transcript": "ENST00000917304.1",
"protein_id": "ENSP00000587363.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 110,
"cds_start": 266,
"cds_end": null,
"cds_length": 333,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.*1T>C",
"hgvs_p": null,
"transcript": "NM_001297769.2",
"protein_id": "NP_001284698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": null,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297769.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.*1T>C",
"hgvs_p": null,
"transcript": "ENST00000505719.1",
"protein_id": "ENSP00000425268.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.*1T>C",
"hgvs_p": null,
"transcript": "NM_001297770.2",
"protein_id": "NP_001284699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297770.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.*1T>C",
"hgvs_p": null,
"transcript": "ENST00000507349.5",
"protein_id": "ENSP00000426930.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507349.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1439A>G",
"hgvs_p": null,
"transcript": "ENST00000856948.1",
"protein_id": "ENSP00000527007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1439A>G",
"hgvs_p": null,
"transcript": "NM_001345962.2",
"protein_id": "NP_001332891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345962.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.*1T>C",
"hgvs_p": null,
"transcript": "NM_001297769.2",
"protein_id": "NP_001284698.1",
"transcript_support_level": null,
"aa_start": null,
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"revel_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_016067.4",
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{
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"transcript": "NM_139076.3",
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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
}