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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: 19-1058177-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1058177&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCA7",
"hgnc_id": 37,
"hgvs_c": "c.5057A>G",
"hgvs_p": "p.Gln1686Arg",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_019112.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 69345,
"alphamissense_prediction": null,
"alphamissense_score": 0.0579,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "ABCA7-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0013472437858581543,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "Q",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6815,
"cdna_start": 5284,
"cds_end": null,
"cds_length": 6441,
"cds_start": 5057,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_019112.4",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.5057A>G",
"hgvs_p": "p.Gln1686Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263094.11",
"protein_coding": true,
"protein_id": "NP_061985.2",
"strand": true,
"transcript": "NM_019112.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "Q",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6815,
"cdna_start": 5284,
"cds_end": null,
"cds_length": 6441,
"cds_start": 5057,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000263094.11",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.5057A>G",
"hgvs_p": "p.Gln1686Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019112.4",
"protein_coding": true,
"protein_id": "ENSP00000263094.6",
"strand": true,
"transcript": "ENST00000263094.11",
"transcript_support_level": 5
},
{
"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": 6883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 44,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000433129.6",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "n.5357A>G",
"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": "ENST00000433129.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 590,
"aa_ref": "Q",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1773,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000525073.6",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Gln130Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432031.2",
"strand": true,
"transcript": "ENST00000525073.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "Q",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6685,
"cdna_start": 5154,
"cds_end": null,
"cds_length": 6441,
"cds_start": 5057,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_047438044.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.5057A>G",
"hgvs_p": "p.Gln1686Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294000.1",
"strand": true,
"transcript": "XM_047438044.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2137,
"aa_ref": "Q",
"aa_start": 1677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6788,
"cdna_start": 5257,
"cds_end": null,
"cds_length": 6414,
"cds_start": 5030,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_047438045.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.5030A>G",
"hgvs_p": "p.Gln1677Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294001.1",
"strand": true,
"transcript": "XM_047438045.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2128,
"aa_ref": "Q",
"aa_start": 1668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6761,
"cdna_start": 5230,
"cds_end": null,
"cds_length": 6387,
"cds_start": 5003,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_006722616.2",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.5003A>G",
"hgvs_p": "p.Gln1668Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722679.1",
"strand": true,
"transcript": "XM_006722616.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2128,
"aa_ref": "Q",
"aa_start": 1668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5100,
"cds_end": null,
"cds_length": 6387,
"cds_start": 5003,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_047438046.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.5003A>G",
"hgvs_p": "p.Gln1668Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294002.1",
"strand": true,
"transcript": "XM_047438046.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "Q",
"aa_start": 1643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6686,
"cdna_start": 5155,
"cds_end": null,
"cds_length": 6312,
"cds_start": 4928,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_047438047.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.4928A>G",
"hgvs_p": "p.Gln1643Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294003.1",
"strand": true,
"transcript": "XM_047438047.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1994,
"aa_ref": "Q",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6258,
"cdna_start": 4727,
"cds_end": null,
"cds_length": 5985,
"cds_start": 4601,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_047438049.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.4601A>G",
"hgvs_p": "p.Gln1534Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294005.1",
"strand": true,
"transcript": "XM_047438049.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "Q",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6305,
"cdna_start": 5284,
"cds_end": null,
"cds_length": 5967,
"cds_start": 5057,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_047438051.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.5057A>G",
"hgvs_p": "p.Gln1686Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294007.1",
"strand": true,
"transcript": "XM_047438051.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1365,
"aa_ref": "Q",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2825,
"cds_end": null,
"cds_length": 4098,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047438054.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.2714A>G",
"hgvs_p": "p.Gln905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294010.1",
"strand": true,
"transcript": "XM_047438054.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1365,
"aa_ref": "Q",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 2821,
"cds_end": null,
"cds_length": 4098,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047438055.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.2714A>G",
"hgvs_p": "p.Gln905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294011.1",
"strand": true,
"transcript": "XM_047438055.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1593,
"aa_ref": "T",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5149,
"cdna_start": 4961,
"cds_end": null,
"cds_length": 4782,
"cds_start": 4734,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047438053.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.4734A>G",
"hgvs_p": "p.Thr1578Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294009.1",
"strand": true,
"transcript": "XM_047438053.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": null,
"cds_end": null,
"cds_length": 4896,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011527633.3",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.*16A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525935.1",
"strand": true,
"transcript": "XM_011527633.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1997,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6368,
"cdna_start": null,
"cds_end": null,
"cds_length": 5994,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438048.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.4703-441A>G",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294004.1",
"strand": true,
"transcript": "XM_047438048.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1688,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": null,
"cds_end": null,
"cds_length": 5067,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438052.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "c.4881-441A>G",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294008.1",
"strand": true,
"transcript": "XM_047438052.1",
"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": 4221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000435683.7",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "n.*1169A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465322.2",
"strand": true,
"transcript": "ENST00000435683.7",
"transcript_support_level": 5
},
{
"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": 512,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000529442.7",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "n.*16A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000480811.1",
"strand": true,
"transcript": "ENST00000529442.7",
"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": 676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000532194.3",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "n.92A>G",
"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": "ENST00000532194.3",
"transcript_support_level": 3
},
{
"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": 3855,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000673773.1",
"gene_hgnc_id": 37,
"gene_symbol": "ABCA7",
"hgvs_c": "n.1700A>G",
"hgvs_p": null,
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