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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: 2-9505177-ACC-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9505177&ref=ACC&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAM17",
"hgnc_id": 195,
"hgvs_c": "c.1531_1533delGGTinsTCG",
"hgvs_p": "p.Gly511Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003183.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000239300",
"hgnc_id": null,
"hgvs_c": "n.121-268_121-266delACCinsCGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000472619.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "IAH1",
"hgnc_id": 27696,
"hgvs_c": "n.986-268_986-266delACCinsCGA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "XR_001738721.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 824,
"aa_ref": "G",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003183.6",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1531_1533delGGTinsTCG",
"hgvs_p": "p.Gly511Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310823.8",
"protein_coding": true,
"protein_id": "NP_003174.3",
"strand": false,
"transcript": "NM_003183.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 824,
"aa_ref": "G",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310823.8",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1531_1533delGGTinsTCG",
"hgvs_p": "p.Gly511Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003183.6",
"protein_coding": true,
"protein_id": "ENSP00000309968.3",
"strand": false,
"transcript": "ENST00000310823.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "G",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4309,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926352.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1609_1611delGGTinsTCG",
"hgvs_p": "p.Gly537Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596411.1",
"strand": false,
"transcript": "ENST00000926352.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 834,
"aa_ref": "G",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945284.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1561_1563delGGTinsTCG",
"hgvs_p": "p.Gly521Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615343.1",
"strand": false,
"transcript": "ENST00000945284.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 822,
"aa_ref": "G",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4288,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945282.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1531_1533delGGTinsTCG",
"hgvs_p": "p.Gly511Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615341.1",
"strand": false,
"transcript": "ENST00000945282.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 794,
"aa_ref": "G",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699318.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1441_1443delGGTinsTCG",
"hgvs_p": "p.Gly481Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514297.1",
"strand": false,
"transcript": "ENST00000699318.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 773,
"aa_ref": "G",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1378,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867642.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1378_1380delGGTinsTCG",
"hgvs_p": "p.Gly460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537701.1",
"strand": false,
"transcript": "ENST00000867642.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 736,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945283.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1267_1269delGGTinsTCG",
"hgvs_p": "p.Gly423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615342.1",
"strand": false,
"transcript": "ENST00000945283.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 604,
"aa_ref": "G",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 1815,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382777.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.871_873delGGTinsTCG",
"hgvs_p": "p.Gly291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369706.1",
"strand": false,
"transcript": "NM_001382777.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 577,
"aa_ref": "G",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4776,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699324.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1531_1533delGGTinsTCG",
"hgvs_p": "p.Gly511Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514300.1",
"strand": false,
"transcript": "ENST00000699324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2106,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699325.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1531_1533delGGTinsTCG",
"hgvs_p": "p.Gly511Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514301.1",
"strand": false,
"transcript": "ENST00000699325.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1578,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382778.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.634_636delGGTinsTCG",
"hgvs_p": "p.Gly212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369707.1",
"strand": false,
"transcript": "NM_001382778.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 793,
"aa_ref": "G",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4456,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047445610.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.1438_1440delGGTinsTCG",
"hgvs_p": "p.Gly480Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301566.1",
"strand": false,
"transcript": "XM_047445610.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1578,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047445611.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.634_636delGGTinsTCG",
"hgvs_p": "p.Gly212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301567.1",
"strand": false,
"transcript": "XM_047445611.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1578,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047445612.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "c.634_636delGGTinsTCG",
"hgvs_p": "p.Gly212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301568.1",
"strand": false,
"transcript": "XM_047445612.1",
"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": 2513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000647610.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "n.*991_*993delGGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497929.1",
"strand": false,
"transcript": "ENST00000647610.1",
"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": 2839,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647979.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "n.*1061_*1063delGGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497542.1",
"strand": false,
"transcript": "ENST00000647979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000648548.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "n.1758_1760delGGTinsTCG",
"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": "ENST00000648548.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000648857.1",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "n.1601_1603delGGTinsTCG",
"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": "ENST00000648857.1",
"transcript_support_level": null
},
{
"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": 4740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649068.2",
"gene_hgnc_id": 195,
"gene_symbol": "ADAM17",
"hgvs_c": "n.3642_3644delGGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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