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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: 19-49491055-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49491055&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49491055,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012423.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Val120Leu",
"transcript": "NM_012423.4",
"protein_id": "NP_036555.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 203,
"cds_start": 358,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000391857.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012423.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Val120Leu",
"transcript": "ENST00000391857.9",
"protein_id": "ENSP00000375730.4",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 203,
"cds_start": 358,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012423.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391857.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "n.*201G>C",
"hgvs_p": null,
"transcript": "ENST00000624069.3",
"protein_id": "ENSP00000485546.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000624069.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "n.*201G>C",
"hgvs_p": null,
"transcript": "ENST00000624069.3",
"protein_id": "ENSP00000485546.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000624069.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.376G>C",
"hgvs_p": "p.Val126Leu",
"transcript": "ENST00000467825.2",
"protein_id": "ENSP00000470037.2",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 209,
"cds_start": 376,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467825.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Val118Leu",
"transcript": "ENST00000961389.1",
"protein_id": "ENSP00000631448.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 201,
"cds_start": 352,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961389.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Val116Leu",
"transcript": "ENST00000915795.1",
"protein_id": "ENSP00000585854.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 199,
"cds_start": 346,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915795.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Val115Leu",
"transcript": "ENST00000678510.1",
"protein_id": "ENSP00000502969.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 198,
"cds_start": 343,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678510.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Val120Leu",
"transcript": "ENST00000857998.1",
"protein_id": "ENSP00000528057.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 198,
"cds_start": 358,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857998.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Val120Leu",
"transcript": "ENST00000679106.1",
"protein_id": "ENSP00000504662.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 188,
"cds_start": 358,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679106.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu",
"transcript": "ENST00000915794.1",
"protein_id": "ENSP00000585853.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 169,
"cds_start": 256,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915794.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Val120Leu",
"transcript": "ENST00000857999.1",
"protein_id": "ENSP00000528058.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 162,
"cds_start": 358,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857999.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.175G>C",
"hgvs_p": "p.Val59Leu",
"transcript": "NM_001270491.2",
"protein_id": "NP_001257420.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 142,
"cds_start": 175,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270491.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.175G>C",
"hgvs_p": "p.Val59Leu",
"transcript": "ENST00000621674.4",
"protein_id": "ENSP00000477755.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 142,
"cds_start": 175,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621674.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Val38Leu",
"transcript": "ENST00000961390.1",
"protein_id": "ENSP00000631449.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 121,
"cds_start": 112,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.343-18G>C",
"hgvs_p": null,
"transcript": "ENST00000858000.1",
"protein_id": "ENSP00000528059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858000.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.342+191G>C",
"hgvs_p": null,
"transcript": "ENST00000915798.1",
"protein_id": "ENSP00000585857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.310-18G>C",
"hgvs_p": null,
"transcript": "ENST00000915797.1",
"protein_id": "ENSP00000585856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.342+191G>C",
"hgvs_p": null,
"transcript": "ENST00000915800.1",
"protein_id": "ENSP00000585859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.342+191G>C",
"hgvs_p": null,
"transcript": "ENST00000915799.1",
"protein_id": "ENSP00000585858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.342+191G>C",
"hgvs_p": null,
"transcript": "ENST00000915796.1",
"protein_id": "ENSP00000585855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "n.236G>C",
"hgvs_p": null,
"transcript": "ENST00000468655.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012423.4",
"gene_symbol": "RPL13A",
"hgnc_id": 10304,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Val120Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_000018.1",
"gene_symbol": "SNORD35A",
"hgnc_id": 10162,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-120G>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_000019.1",
"gene_symbol": "SNORD34",
"hgnc_id": 10161,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*83G>C",
"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
}