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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: 3-37777432-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37777432&ref=C&alt=G&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": "ITGA9",
"hgnc_id": 6145,
"hgvs_c": "c.2582C>G",
"hgvs_p": "p.Pro861Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002207.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ITGA9-AS1",
"hgnc_id": 49668,
"hgvs_c": "n.603+13411G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000420870.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1602,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.261488139629364,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "P",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7860,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2582,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_002207.3",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2582C>G",
"hgvs_p": "p.Pro861Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264741.10",
"protein_coding": true,
"protein_id": "NP_002198.2",
"strand": true,
"transcript": "NM_002207.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "P",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7860,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2582,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000264741.10",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2582C>G",
"hgvs_p": "p.Pro861Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002207.3",
"protein_coding": true,
"protein_id": "ENSP00000264741.5",
"strand": true,
"transcript": "ENST00000264741.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "P",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7780,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2579,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000921363.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Pro860Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591422.1",
"strand": true,
"transcript": "ENST00000921363.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "P",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7855,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2579,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000944256.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Pro860Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614315.1",
"strand": true,
"transcript": "ENST00000944256.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "P",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 2797,
"cds_end": null,
"cds_length": 3099,
"cds_start": 2573,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000944258.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2573C>G",
"hgvs_p": "p.Pro858Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614317.1",
"strand": true,
"transcript": "ENST00000944258.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "P",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2724,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2492,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000944260.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2492C>G",
"hgvs_p": "p.Pro831Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614319.1",
"strand": true,
"transcript": "ENST00000944260.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 989,
"aa_ref": "P",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000944261.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Pro815Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614320.1",
"strand": true,
"transcript": "ENST00000944261.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 988,
"aa_ref": "P",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000944259.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2441C>G",
"hgvs_p": "p.Pro814Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614318.1",
"strand": true,
"transcript": "ENST00000944259.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 961,
"aa_ref": "P",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 2867,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2582,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000921364.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2582C>G",
"hgvs_p": "p.Pro861Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591423.1",
"strand": true,
"transcript": "ENST00000921364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 993,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7696,
"cdna_start": null,
"cds_end": null,
"cds_length": 2982,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944257.1",
"gene_hgnc_id": 6145,
"gene_symbol": "ITGA9",
"hgvs_c": "c.2542-2470C>G",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614316.1",
"strand": true,
"transcript": "ENST00000944257.1",
"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": 1338,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420870.6",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.603+13411G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000420870.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
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"feature": "ENST00000438136.5",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.215-23380G>C",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000438136.5",
"transcript_support_level": 4
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000630762.3",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.60-23380G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000630762.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000653023.1",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.336-23380G>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000653023.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000653285.1",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.238-23380G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000653285.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 522,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000653850.1",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.38-23380G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000653850.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000655095.1",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.225-23380G>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000655095.1",
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},
{
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"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000660790.1",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.255-23380G>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000660790.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
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"feature": "ENST00000661580.1",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.155-23380G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000661580.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000663533.1",
"gene_hgnc_id": 49668,
"gene_symbol": "ITGA9-AS1",
"hgvs_c": "n.152-23380G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000663533.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000663634.1",
"gene_hgnc_id": 49668,
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