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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: 5-74796041-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74796041&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM169A",
"hgnc_id": 29138,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015566.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0698,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1150357723236084,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001376049.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000687041.1",
"protein_coding": true,
"protein_id": "NP_001362978.1",
"strand": false,
"transcript": "NM_001376049.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000687041.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001376049.1",
"protein_coding": true,
"protein_id": "ENSP00000508577.1",
"strand": false,
"transcript": "ENST00000687041.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000389156.9",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373808.4",
"strand": false,
"transcript": "ENST00000389156.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5908,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000510609.5",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423905.1",
"strand": false,
"transcript": "ENST00000510609.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5954,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000514215.5",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425319.1",
"strand": false,
"transcript": "ENST00000514215.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5908,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000510609.5",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423905.1",
"strand": false,
"transcript": "ENST00000510609.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5954,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000514215.5",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425319.1",
"strand": false,
"transcript": "ENST00000514215.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 678,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000880931.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550990.1",
"strand": false,
"transcript": "ENST00000880931.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 678,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000880932.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550991.1",
"strand": false,
"transcript": "ENST00000880932.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6960,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001376050.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362979.1",
"strand": false,
"transcript": "NM_001376050.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6948,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001376051.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362980.1",
"strand": false,
"transcript": "NM_001376051.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6621,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001376052.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362981.1",
"strand": false,
"transcript": "NM_001376052.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_015566.3",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056381.1",
"strand": false,
"transcript": "NM_015566.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4664,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000880933.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550992.1",
"strand": false,
"transcript": "ENST00000880933.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000880934.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550993.1",
"strand": false,
"transcript": "ENST00000880934.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6292,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000921749.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591808.1",
"strand": false,
"transcript": "ENST00000921749.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7860,
"cdna_start": 3210,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000921753.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591812.1",
"strand": false,
"transcript": "ENST00000921753.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6057,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000921754.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591813.1",
"strand": false,
"transcript": "ENST00000921754.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000921755.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591814.1",
"strand": false,
"transcript": "ENST00000921755.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 670,
"aa_ref": "D",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941597.1",
"gene_hgnc_id": 29138,
"gene_symbol": "FAM169A",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Asp417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611656.1",
"strand": false,
"transcript": "ENST00000941597.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 610,
"aa_ref": "D",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5810,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000510496.5",
"gene_hgnc_id": 29138,
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