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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: 11-62566816-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62566816&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EEF1G",
"hgnc_id": 3213,
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Leu283Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001404.5",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000255508",
"hgnc_id": null,
"hgvs_c": "n.*2897C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000496634.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6747",
"hgnc_id": 50027,
"hgvs_c": "n.*195C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NR_106805.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 37,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5154,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4641515910625458,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 437,
"aa_ref": "L",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1314,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001404.5",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Leu283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000329251.5",
"protein_coding": true,
"protein_id": "NP_001395.1",
"strand": false,
"transcript": "NM_001404.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 437,
"aa_ref": "L",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1314,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000329251.5",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Leu283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001404.5",
"protein_coding": true,
"protein_id": "ENSP00000331901.4",
"strand": false,
"transcript": "ENST00000329251.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000496634.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255508",
"hgvs_c": "n.*2897C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456163.1",
"strand": false,
"transcript": "ENST00000496634.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000525340.5",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "n.1953C>G",
"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": "ENST00000525340.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000496634.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255508",
"hgvs_c": "n.*2897C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456163.1",
"strand": false,
"transcript": "ENST00000496634.2",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 467,
"aa_ref": "L",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1404,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878316.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Leu313Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548375.1",
"strand": false,
"transcript": "ENST00000878316.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 451,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1356,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878320.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.889C>G",
"hgvs_p": "p.Leu297Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548379.1",
"strand": false,
"transcript": "ENST00000878320.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 450,
"aa_ref": "L",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1353,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960087.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.886C>G",
"hgvs_p": "p.Leu296Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630146.1",
"strand": false,
"transcript": "ENST00000960087.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "L",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1323,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878314.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Leu283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548373.1",
"strand": false,
"transcript": "ENST00000878314.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 436,
"aa_ref": "L",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1311,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925053.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Leu282Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595112.1",
"strand": false,
"transcript": "ENST00000925053.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 434,
"aa_ref": "L",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1305,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925056.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Leu280Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595115.1",
"strand": false,
"transcript": "ENST00000925056.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 431,
"aa_ref": "L",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1296,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925055.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Leu277Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595114.1",
"strand": false,
"transcript": "ENST00000925055.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 429,
"aa_ref": "L",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1290,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878313.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.823C>G",
"hgvs_p": "p.Leu275Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548372.1",
"strand": false,
"transcript": "ENST00000878313.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 415,
"aa_ref": "L",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1248,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925059.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.781C>G",
"hgvs_p": "p.Leu261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595118.1",
"strand": false,
"transcript": "ENST00000925059.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 409,
"aa_ref": "L",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1230,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878318.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.763C>G",
"hgvs_p": "p.Leu255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548377.1",
"strand": false,
"transcript": "ENST00000878318.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 408,
"aa_ref": "L",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1227,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925058.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Leu254Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595117.1",
"strand": false,
"transcript": "ENST00000925058.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 407,
"aa_ref": "L",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1224,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925060.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595119.1",
"strand": false,
"transcript": "ENST00000925060.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 389,
"aa_ref": "L",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1267,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1170,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000878317.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.703C>G",
"hgvs_p": "p.Leu235Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548376.1",
"strand": false,
"transcript": "ENST00000878317.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 384,
"aa_ref": "L",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 710,
"cds_end": null,
"cds_length": 1155,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000878312.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.688C>G",
"hgvs_p": "p.Leu230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548371.1",
"strand": false,
"transcript": "ENST00000878312.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 381,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1146,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000878319.1",
"gene_hgnc_id": 3213,
"gene_symbol": "EEF1G",
"hgvs_c": "c.679C>G",
"hgvs_p": "p.Leu227Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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