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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: 11-74034102-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=74034102&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "C2CD3",
"hgnc_id": 24564,
"hgvs_c": "c.6058T>C",
"hgvs_p": "p.Ser2020Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001286577.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000298570",
"hgnc_id": null,
"hgvs_c": "n.420-2450A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000756620.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 64009,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0499,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00020325183868408203,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "S",
"aa_start": 2020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7939,
"cdna_start": 6268,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6058,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001286577.2",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "c.6058T>C",
"hgvs_p": "p.Ser2020Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334126.12",
"protein_coding": true,
"protein_id": "NP_001273506.1",
"strand": false,
"transcript": "NM_001286577.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "S",
"aa_start": 2020,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7939,
"cdna_start": 6268,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6058,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000334126.12",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "c.6058T>C",
"hgvs_p": "p.Ser2020Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286577.2",
"protein_coding": true,
"protein_id": "ENSP00000334379.7",
"strand": false,
"transcript": "ENST00000334126.12",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2308,
"aa_ref": "S",
"aa_start": 2020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6977,
"cdna_start": 6058,
"cds_end": null,
"cds_length": 6927,
"cds_start": 6058,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000680231.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "c.6058T>C",
"hgvs_p": "p.Ser2020Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505413.1",
"strand": false,
"transcript": "ENST00000680231.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2301,
"aa_ref": "S",
"aa_start": 2020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7598,
"cdna_start": 6058,
"cds_end": null,
"cds_length": 6906,
"cds_start": 6058,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000679906.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "c.6058T>C",
"hgvs_p": "p.Ser2020Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505021.1",
"strand": false,
"transcript": "ENST00000679906.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2218,
"aa_ref": "S",
"aa_start": 1885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7297,
"cdna_start": 5653,
"cds_end": null,
"cds_length": 6657,
"cds_start": 5653,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000681143.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "c.5653T>C",
"hgvs_p": "p.Ser1885Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505970.1",
"strand": false,
"transcript": "ENST00000681143.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "S",
"aa_start": 1855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7317,
"cdna_start": 5646,
"cds_end": null,
"cds_length": 6567,
"cds_start": 5563,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000923534.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "c.5563T>C",
"hgvs_p": "p.Ser1855Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593593.1",
"strand": false,
"transcript": "ENST00000923534.1",
"transcript_support_level": null
},
{
"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": 7683,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000442398.7",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*246T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404577.3",
"strand": false,
"transcript": "ENST00000442398.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538625.2",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.1476T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000538625.2",
"transcript_support_level": 2
},
{
"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": 7670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000679415.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*5506T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505672.1",
"strand": false,
"transcript": "ENST00000679415.1",
"transcript_support_level": null
},
{
"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": 7977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000680665.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*1334T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505527.1",
"strand": false,
"transcript": "ENST00000680665.1",
"transcript_support_level": null
},
{
"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": 7289,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000680839.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*5015T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506002.1",
"strand": false,
"transcript": "ENST00000680839.1",
"transcript_support_level": null
},
{
"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": 7767,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000681291.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*5510T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505182.1",
"strand": false,
"transcript": "ENST00000681291.1",
"transcript_support_level": null
},
{
"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": 7361,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000681385.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*5306T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505069.1",
"strand": false,
"transcript": "ENST00000681385.1",
"transcript_support_level": null
},
{
"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": 7777,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000681609.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*4626T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505133.1",
"strand": false,
"transcript": "ENST00000681609.1",
"transcript_support_level": null
},
{
"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": 7614,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000681811.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*1349T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506315.1",
"strand": false,
"transcript": "ENST00000681811.1",
"transcript_support_level": null
},
{
"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": 7206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000681829.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.6058T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505375.1",
"strand": false,
"transcript": "ENST00000681829.1",
"transcript_support_level": null
},
{
"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": 7808,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000681924.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*2209T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505101.1",
"strand": false,
"transcript": "ENST00000681924.1",
"transcript_support_level": null
},
{
"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": 7683,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000442398.7",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*246T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404577.3",
"strand": false,
"transcript": "ENST00000442398.7",
"transcript_support_level": 2
},
{
"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": 7670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000679415.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*5506T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505672.1",
"strand": false,
"transcript": "ENST00000679415.1",
"transcript_support_level": null
},
{
"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": 7977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000680665.1",
"gene_hgnc_id": 24564,
"gene_symbol": "C2CD3",
"hgvs_c": "n.*1334T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505527.1",
"strand": false,
"transcript": "ENST00000680665.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
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