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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: 7-124841058-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=124841058&ref=A&alt=C&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": "POT1",
"hgnc_id": 17284,
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015450.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1738,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07571792602539062,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_015450.3",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357628.8",
"protein_coding": true,
"protein_id": "NP_056265.2",
"strand": false,
"transcript": "NM_015450.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000357628.8",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015450.3",
"protein_coding": true,
"protein_id": "ENSP00000350249.3",
"strand": false,
"transcript": "ENST00000357628.8",
"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": 1827,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000607932.5",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "n.1284T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476506.1",
"strand": false,
"transcript": "ENST00000607932.5",
"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": 2036,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000608057.5",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "n.*381T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476371.1",
"strand": false,
"transcript": "ENST00000608057.5",
"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": 2036,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000608057.5",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "n.*381T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476371.1",
"strand": false,
"transcript": "ENST00000608057.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000653241.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499476.1",
"strand": false,
"transcript": "ENST00000653241.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000655761.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499635.1",
"strand": false,
"transcript": "ENST00000655761.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000664366.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499290.1",
"strand": false,
"transcript": "ENST00000664366.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000668382.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499546.1",
"strand": false,
"transcript": "ENST00000668382.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000867252.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537311.1",
"strand": false,
"transcript": "ENST00000867252.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000867254.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537313.1",
"strand": false,
"transcript": "ENST00000867254.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928342.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598401.1",
"strand": false,
"transcript": "ENST00000928342.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 1935,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000928344.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598403.1",
"strand": false,
"transcript": "ENST00000928344.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000928345.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598404.1",
"strand": false,
"transcript": "ENST00000928345.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": 4603,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928346.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598405.1",
"strand": false,
"transcript": "ENST00000928346.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 1711,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947757.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617816.1",
"strand": false,
"transcript": "ENST00000947757.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000947758.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617817.1",
"strand": false,
"transcript": "ENST00000947758.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 629,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947756.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617815.1",
"strand": false,
"transcript": "ENST00000947756.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 559,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000654766.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499395.1",
"strand": false,
"transcript": "ENST00000654766.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 559,
"aa_ref": "N",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000928341.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
"hgvs_c": "c.1284T>G",
"hgvs_p": "p.Asn428Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598400.1",
"strand": false,
"transcript": "ENST00000928341.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 537,
"aa_ref": "N",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1614,
"cds_start": 993,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000867253.1",
"gene_hgnc_id": 17284,
"gene_symbol": "POT1",
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