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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: 3-29587153-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=29587153&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 29587153,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001003793.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "NM_001003793.3",
"protein_id": "NP_001003793.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 437,
"cds_start": 347,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": "ENST00000383767.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003793.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000383767.7",
"protein_id": "ENSP00000373277.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 437,
"cds_start": 347,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": "NM_001003793.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383767.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000456853.1",
"protein_id": "ENSP00000400519.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 347,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456853.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000273139.13",
"protein_id": "ENSP00000273139.9",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 420,
"cds_start": 347,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273139.13"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Gln115Pro",
"transcript": "ENST00000383766.6",
"protein_id": "ENSP00000373276.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 419,
"cds_start": 344,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383766.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283563",
"gene_hgnc_id": null,
"hgvs_c": "n.*854A>C",
"hgvs_p": null,
"transcript": "ENST00000635992.1",
"protein_id": "ENSP00000489994.1",
"transcript_support_level": 5,
"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": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283563",
"gene_hgnc_id": null,
"hgvs_c": "n.*854A>C",
"hgvs_p": null,
"transcript": "ENST00000635992.1",
"protein_id": "ENSP00000489994.1",
"transcript_support_level": 5,
"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": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635992.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.725A>C",
"hgvs_p": "p.Gln242Pro",
"transcript": "ENST00000636680.2",
"protein_id": "ENSP00000490271.2",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 563,
"cds_start": 725,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636680.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000963909.1",
"protein_id": "ENSP00000633968.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 450,
"cds_start": 347,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963909.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Gln115Pro",
"transcript": "NM_001330696.1",
"protein_id": "NP_001317625.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 436,
"cds_start": 344,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 8214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330696.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Gln115Pro",
"transcript": "ENST00000434693.6",
"protein_id": "ENSP00000395592.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 436,
"cds_start": 344,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 8540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434693.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000963905.1",
"protein_id": "ENSP00000633964.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 434,
"cds_start": 347,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963905.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Gln115Pro",
"transcript": "ENST00000963911.1",
"protein_id": "ENSP00000633970.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 434,
"cds_start": 344,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963911.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "NM_001177712.2",
"protein_id": "NP_001171183.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 347,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177712.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000874347.1",
"protein_id": "ENSP00000544406.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 347,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874347.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Gln115Pro",
"transcript": "ENST00000963910.1",
"protein_id": "ENSP00000633969.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 433,
"cds_start": 344,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963910.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000963912.1",
"protein_id": "ENSP00000633971.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 429,
"cds_start": 347,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963912.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "NM_001177711.2",
"protein_id": "NP_001171182.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 421,
"cds_start": 347,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177711.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000452462.5",
"protein_id": "ENSP00000397926.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 421,
"cds_start": 347,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452462.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "NM_014483.4",
"protein_id": "NP_055298.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 420,
"cds_start": 347,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014483.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Gln115Pro",
"transcript": "ENST00000874344.1",
"protein_id": "ENSP00000544403.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 420,
"cds_start": 344,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874344.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro",
"transcript": "ENST00000874345.1",
"protein_id": "ENSP00000544404.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 420,
"cds_start": 347,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3205,
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"inheritance_mode": "AR",
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Gln116Pro"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000635992.1",
"gene_symbol": "ENSG00000283563",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*854A>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000629296.2",
"gene_symbol": "RBMS3-AS2",
"hgnc_id": 39988,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.347+29158T>G",
"hgvs_p": null
}
],
"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
}