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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: 13-40933753-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=40933753&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 40933753,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_172373.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "NM_172373.4",
"protein_id": "NP_758961.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000239882.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172373.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000239882.7",
"protein_id": "ENSP00000239882.3",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000239882.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "NM_001370330.1",
"protein_id": "NP_001357259.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370330.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "NM_001370331.1",
"protein_id": "NP_001357260.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370331.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "NM_001370332.1",
"protein_id": "NP_001357261.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370332.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891312.1",
"protein_id": "ENSP00000561371.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891312.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891313.1",
"protein_id": "ENSP00000561372.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891313.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891314.1",
"protein_id": "ENSP00000561373.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891314.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891315.1",
"protein_id": "ENSP00000561374.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891315.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891316.1",
"protein_id": "ENSP00000561375.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891316.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891317.1",
"protein_id": "ENSP00000561376.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891317.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891319.1",
"protein_id": "ENSP00000561378.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891319.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891320.1",
"protein_id": "ENSP00000561379.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891320.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891321.1",
"protein_id": "ENSP00000561380.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891321.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891322.1",
"protein_id": "ENSP00000561381.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891322.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000891323.1",
"protein_id": "ENSP00000561382.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891323.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000955689.1",
"protein_id": "ENSP00000625748.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 619,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955689.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Asn511Ser",
"transcript": "ENST00000635415.1",
"protein_id": "ENSP00000489586.1",
"transcript_support_level": 5,
"aa_start": 511,
"aa_end": null,
"aa_length": 614,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635415.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asn487Ser",
"transcript": "NM_001145353.1",
"protein_id": "NP_001138825.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 595,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145353.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asn487Ser",
"transcript": "ENST00000625359.1",
"protein_id": "ENSP00000486912.1",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 595,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625359.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "ENST00000891318.1",
"protein_id": "ENSP00000561377.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 591,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891318.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.1355A>G",
"hgvs_p": "p.Asn452Ser",
"transcript": "NM_001370329.1",
"protein_id": "NP_001357258.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 560,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.73,
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"phylop100way_prediction": "Benign",
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{
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],
"verdict": "Benign",
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],
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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
}