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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: 6-30703174-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30703174&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MDC1",
"hgnc_id": 21163,
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_014641.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MDC1-AS1",
"hgnc_id": 39764,
"hgvs_c": "n.108C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000442150.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 9,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5396,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4209297001361847,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2089,
"aa_ref": "R",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6968,
"cdna_start": 5835,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_014641.3",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376406.8",
"protein_coding": true,
"protein_id": "NP_055456.2",
"strand": false,
"transcript": "NM_014641.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2089,
"aa_ref": "R",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6968,
"cdna_start": 5835,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000376406.8",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014641.3",
"protein_coding": true,
"protein_id": "ENSP00000365588.3",
"strand": false,
"transcript": "ENST00000376406.8",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2089,
"aa_ref": "R",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7197,
"cdna_start": 6066,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939654.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609713.1",
"strand": false,
"transcript": "ENST00000939654.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1899,
"aa_ref": "R",
"aa_start": 1742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6427,
"cdna_start": 5294,
"cds_end": null,
"cds_length": 5700,
"cds_start": 5225,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000860518.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5225G>A",
"hgvs_p": "p.Arg1742His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530577.1",
"strand": false,
"transcript": "ENST00000860518.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1899,
"aa_ref": "R",
"aa_start": 1742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": 5748,
"cds_end": null,
"cds_length": 5700,
"cds_start": 5225,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939653.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5225G>A",
"hgvs_p": "p.Arg1742His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609712.1",
"strand": false,
"transcript": "ENST00000939653.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "R",
"aa_start": 1665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": 5040,
"cds_end": null,
"cds_length": 5469,
"cds_start": 4994,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939656.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.4994G>A",
"hgvs_p": "p.Arg1665His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609715.1",
"strand": false,
"transcript": "ENST00000939656.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "R",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 3565,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3518,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939655.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.3518G>A",
"hgvs_p": "p.Arg1173His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609714.1",
"strand": false,
"transcript": "ENST00000939655.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "R",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 2759,
"cds_end": null,
"cds_length": 3201,
"cds_start": 2726,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860519.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530578.1",
"strand": false,
"transcript": "ENST00000860519.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2110,
"aa_ref": "R",
"aa_start": 1953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7331,
"cdna_start": 6198,
"cds_end": null,
"cds_length": 6333,
"cds_start": 5858,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005249492.3",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5858G>A",
"hgvs_p": "p.Arg1953His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005249549.1",
"strand": false,
"transcript": "XM_005249492.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2110,
"aa_ref": "R",
"aa_start": 1953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7170,
"cdna_start": 6037,
"cds_end": null,
"cds_length": 6333,
"cds_start": 5858,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419580.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5858G>A",
"hgvs_p": "p.Arg1953His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275536.1",
"strand": false,
"transcript": "XM_047419580.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2109,
"aa_ref": "R",
"aa_start": 1952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7167,
"cdna_start": 6034,
"cds_end": null,
"cds_length": 6330,
"cds_start": 5855,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419581.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5855G>A",
"hgvs_p": "p.Arg1952His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275537.1",
"strand": false,
"transcript": "XM_047419581.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 2089,
"aa_ref": "R",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6964,
"cdna_start": 5831,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005249494.6",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005249551.1",
"strand": false,
"transcript": "XM_005249494.6",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7175,
"cdna_start": 6042,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011515003.4",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513305.1",
"strand": false,
"transcript": "XM_011515003.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7088,
"cdna_start": 5955,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419582.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275538.1",
"strand": false,
"transcript": "XM_047419582.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 2089,
"aa_ref": "R",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7249,
"cdna_start": 6116,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419583.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275539.1",
"strand": false,
"transcript": "XM_047419583.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 2089,
"aa_ref": "R",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7014,
"cdna_start": 5881,
"cds_end": null,
"cds_length": 6270,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419584.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5795G>A",
"hgvs_p": "p.Arg1932His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275540.1",
"strand": false,
"transcript": "XM_047419584.1",
"transcript_support_level": null
},
{
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"aa_length": 1961,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 5500,
"cds_end": null,
"cds_length": 5886,
"cds_start": 5411,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011515004.4",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5411G>A",
"hgvs_p": "p.Arg1804His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011513306.1",
"strand": false,
"transcript": "XM_011515004.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1920,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6761,
"cdna_start": 5628,
"cds_end": null,
"cds_length": 5763,
"cds_start": 5288,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005249497.5",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5288G>A",
"hgvs_p": "p.Arg1763His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005249554.1",
"strand": false,
"transcript": "XM_005249497.5",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6597,
"cdna_start": 5464,
"cds_end": null,
"cds_length": 5760,
"cds_start": 5285,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419585.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5285G>A",
"hgvs_p": "p.Arg1762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275541.1",
"strand": false,
"transcript": "XM_047419585.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1899,
"aa_ref": "R",
"aa_start": 1742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6394,
"cdna_start": 5261,
"cds_end": null,
"cds_length": 5700,
"cds_start": 5225,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047419586.1",
"gene_hgnc_id": 21163,
"gene_symbol": "MDC1",
"hgvs_c": "c.5225G>A",
"hgvs_p": "p.Arg1742His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275542.1",
"strand": false,
"transcript": "XM_047419586.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1846,
"aa_ref": "R",
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"biotype": "protein_coding",
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