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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: 1-109626384-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109626384&ref=G&alt=A&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": "AMPD2",
"hgnc_id": 469,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004037.9",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.0796,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1928112506866455,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 825,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2478,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001368809.2",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000528667.7",
"protein_coding": true,
"protein_id": "NP_001355738.1",
"strand": true,
"transcript": "NM_001368809.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 825,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2478,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000528667.7",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001368809.2",
"protein_coding": true,
"protein_id": "ENSP00000436541.2",
"strand": true,
"transcript": "ENST00000528667.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 798,
"aa_ref": "R",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 839,
"cds_end": null,
"cds_length": 2397,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000342115.8",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Arg136Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345498.4",
"strand": true,
"transcript": "ENST00000342115.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526301.6",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "n.551G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000526301.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 561,
"cds_end": null,
"cds_length": 2511,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369840.7",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358855.3",
"strand": true,
"transcript": "ENST00000369840.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 825,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 522,
"cds_end": null,
"cds_length": 2478,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004037.9",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004028.4",
"strand": true,
"transcript": "NM_004037.9",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 825,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3899,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 2478,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000256578.8",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256578.4",
"strand": true,
"transcript": "ENST00000256578.8",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 825,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": 808,
"cds_end": null,
"cds_length": 2478,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906732.1",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576791.1",
"strand": true,
"transcript": "ENST00000906732.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": 619,
"cds_end": null,
"cds_length": 2415,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001308170.1",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295099.1",
"strand": true,
"transcript": "NM_001308170.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 798,
"aa_ref": "R",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 839,
"cds_end": null,
"cds_length": 2397,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_139156.4",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Arg136Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_631895.1",
"strand": true,
"transcript": "NM_139156.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 798,
"aa_ref": "R",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 668,
"cds_end": null,
"cds_length": 2397,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531734.6",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Arg136Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433739.2",
"strand": true,
"transcript": "ENST00000531734.6",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 788,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 488,
"cds_end": null,
"cds_length": 2367,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000358729.9",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351573.5",
"strand": true,
"transcript": "ENST00000358729.9",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 761,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 458,
"cds_end": null,
"cds_length": 2286,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001257361.2",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244290.1",
"strand": true,
"transcript": "NM_001257361.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 761,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 673,
"cds_end": null,
"cds_length": 2286,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000528454.5",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437164.1",
"strand": true,
"transcript": "ENST00000528454.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 761,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2600,
"cdna_start": 610,
"cds_end": null,
"cds_length": 2286,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531203.6",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431975.2",
"strand": true,
"transcript": "ENST00000531203.6",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 170,
"cds_end": null,
"cds_length": 2160,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000476688.3",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437025.2",
"strand": true,
"transcript": "ENST00000476688.3",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000667949.2",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "c.-113G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499465.2",
"strand": true,
"transcript": "ENST00000667949.2",
"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": 550,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000459643.2",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "n.517G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000459643.2",
"transcript_support_level": 4
},
{
"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": 3989,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000474459.6",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "n.845G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000474459.6",
"transcript_support_level": 4
},
{
"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": 4600,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000486282.7",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "n.539G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000486282.7",
"transcript_support_level": 4
},
{
"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": 4145,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000524975.2",
"gene_hgnc_id": 469,
"gene_symbol": "AMPD2",
"hgvs_c": "n.448G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000524975.2",
"transcript_support_level": 3
},
{
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}