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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: 2-53787239-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=53787239&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 53787239,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015701.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "NM_015701.5",
"protein_id": "NP_056516.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 483,
"cds_start": 29,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000185150.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015701.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000185150.9",
"protein_id": "ENSP00000185150.4",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 483,
"cds_start": 29,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015701.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000185150.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000378239.5",
"protein_id": "ENSP00000367485.5",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 429,
"cds_start": 29,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378239.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000952242.1",
"protein_id": "ENSP00000622301.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 492,
"cds_start": 29,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952242.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000691853.1",
"protein_id": "ENSP00000509585.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 481,
"cds_start": 29,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691853.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000689496.1",
"protein_id": "ENSP00000509814.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 473,
"cds_start": 29,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689496.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000692350.1",
"protein_id": "ENSP00000508966.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 470,
"cds_start": 29,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692350.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000952239.1",
"protein_id": "ENSP00000622298.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 463,
"cds_start": 29,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952239.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "NM_001127397.3",
"protein_id": "NP_001120869.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 457,
"cds_start": 29,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127397.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000405123.7",
"protein_id": "ENSP00000385629.3",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 457,
"cds_start": 29,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405123.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000901753.1",
"protein_id": "ENSP00000571812.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 456,
"cds_start": 29,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901753.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000690836.1",
"protein_id": "ENSP00000509407.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 455,
"cds_start": 29,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690836.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000901757.1",
"protein_id": "ENSP00000571816.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 450,
"cds_start": 29,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901757.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "NM_001127398.3",
"protein_id": "NP_001120870.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 429,
"cds_start": 29,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127398.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000901758.1",
"protein_id": "ENSP00000571817.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 427,
"cds_start": 29,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901758.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000687723.1",
"protein_id": "ENSP00000510385.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 424,
"cds_start": 29,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687723.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000688464.1",
"protein_id": "ENSP00000510214.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 410,
"cds_start": 29,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688464.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000952241.1",
"protein_id": "ENSP00000622300.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 409,
"cds_start": 29,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952241.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000901754.1",
"protein_id": "ENSP00000571813.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 403,
"cds_start": 29,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901754.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000687552.1",
"protein_id": "ENSP00000510518.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 402,
"cds_start": 29,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687552.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000691939.1",
"protein_id": "ENSP00000508775.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 401,
"cds_start": 29,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691939.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Ser10Asn",
"transcript": "ENST00000901755.1",
"protein_id": "ENSP00000571814.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 397,
"cds_start": 29,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"hgnc_id": 40043,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.102-21654C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000406625.6",
"gene_symbol": "ASB3",
"hgnc_id": 16013,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-13-21654C>T",
"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
}