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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: 1-109627794-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109627794&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109627794,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000528667.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"transcript": "NM_001368809.2",
"protein_id": "NP_001355738.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 825,
"cds_start": 971,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": "ENST00000528667.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"transcript": "ENST00000528667.7",
"protein_id": "ENSP00000436541.2",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 825,
"cds_start": 971,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": "NM_001368809.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.890G>C",
"hgvs_p": "p.Arg297Pro",
"transcript": "ENST00000342115.8",
"protein_id": "ENSP00000345498.4",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 798,
"cds_start": 890,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.1034G>C",
"hgvs_p": null,
"transcript": "ENST00000526301.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"transcript": "ENST00000369840.7",
"protein_id": "ENSP00000358855.3",
"transcript_support_level": 5,
"aa_start": 324,
"aa_end": null,
"aa_length": 836,
"cds_start": 971,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"transcript": "NM_004037.9",
"protein_id": "NP_004028.4",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 825,
"cds_start": 971,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"transcript": "ENST00000256578.8",
"protein_id": "ENSP00000256578.4",
"transcript_support_level": 5,
"aa_start": 324,
"aa_end": null,
"aa_length": 825,
"cds_start": 971,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Arg303Pro",
"transcript": "NM_001308170.1",
"protein_id": "NP_001295099.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 804,
"cds_start": 908,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.890G>C",
"hgvs_p": "p.Arg297Pro",
"transcript": "NM_139156.4",
"protein_id": "NP_631895.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 798,
"cds_start": 890,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.890G>C",
"hgvs_p": "p.Arg297Pro",
"transcript": "ENST00000531734.6",
"protein_id": "ENSP00000433739.2",
"transcript_support_level": 4,
"aa_start": 297,
"aa_end": null,
"aa_length": 798,
"cds_start": 890,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"transcript": "ENST00000358729.9",
"protein_id": "ENSP00000351573.5",
"transcript_support_level": 2,
"aa_start": 324,
"aa_end": null,
"aa_length": 788,
"cds_start": 971,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "NM_001257361.2",
"protein_id": "NP_001244290.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 761,
"cds_start": 779,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000528454.5",
"protein_id": "ENSP00000437164.1",
"transcript_support_level": 2,
"aa_start": 260,
"aa_end": null,
"aa_length": 761,
"cds_start": 779,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000531203.6",
"protein_id": "ENSP00000431975.2",
"transcript_support_level": 4,
"aa_start": 260,
"aa_end": null,
"aa_length": 761,
"cds_start": 779,
"cds_end": null,
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"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.653G>C",
"hgvs_p": "p.Arg218Pro",
"transcript": "ENST00000476688.3",
"protein_id": "ENSP00000437025.2",
"transcript_support_level": 3,
"aa_start": 218,
"aa_end": null,
"aa_length": 719,
"cds_start": 653,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Arg124Pro",
"transcript": "ENST00000667949.2",
"protein_id": "ENSP00000499465.2",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 625,
"cds_start": 371,
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"cds_length": 1878,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.1590G>C",
"hgvs_p": null,
"transcript": "ENST00000474459.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.1694G>C",
"hgvs_p": null,
"transcript": "ENST00000486282.7",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.1305G>C",
"hgvs_p": null,
"transcript": "ENST00000524975.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.1487G>C",
"hgvs_p": null,
"transcript": "ENST00000525415.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.826G>C",
"hgvs_p": null,
"transcript": "ENST00000527846.7",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.21G>C",
"hgvs_p": null,
"transcript": "ENST00000529299.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"hgvs_c": "n.*723G>C",
"hgvs_p": null,
"transcript": "ENST00000652975.2",
"protein_id": "ENSP00000499620.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AMPD2",
"gene_hgnc_id": 469,
"dbsnp": "rs746332433",
"frequency_reference_population": 6.84075e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84075e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9749153852462769,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.956,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.884,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000528667.7",
"gene_symbol": "AMPD2",
"hgnc_id": 469,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}