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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: 6-30703467-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30703467&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30703467,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014641.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn",
"transcript": "NM_014641.3",
"protein_id": "NP_055456.2",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5633,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5673,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "ENST00000376406.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn",
"transcript": "ENST00000376406.8",
"protein_id": "ENSP00000365588.3",
"transcript_support_level": 5,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5633,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5673,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "NM_014641.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5696G>A",
"hgvs_p": "p.Ser1899Asn",
"transcript": "XM_005249492.3",
"protein_id": "XP_005249549.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5696,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 6036,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5696G>A",
"hgvs_p": "p.Ser1899Asn",
"transcript": "XM_047419580.1",
"protein_id": "XP_047275536.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5696,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 5875,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5693G>A",
"hgvs_p": "p.Ser1898Asn",
"transcript": "XM_047419581.1",
"protein_id": "XP_047275537.1",
"transcript_support_level": null,
"aa_start": 1898,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5693,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 5872,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn",
"transcript": "XM_005249494.6",
"protein_id": "XP_005249551.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5633,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5669,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn",
"transcript": "XM_011515003.4",
"protein_id": "XP_011513305.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5633,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5880,
"cdna_end": null,
"cdna_length": 7175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn",
"transcript": "XM_047419582.1",
"protein_id": "XP_047275538.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5633,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5793,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn",
"transcript": "XM_047419583.1",
"protein_id": "XP_047275539.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5633,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5954,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn",
"transcript": "XM_047419584.1",
"protein_id": "XP_047275540.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5633,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5719,
"cdna_end": null,
"cdna_length": 7014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5249G>A",
"hgvs_p": "p.Ser1750Asn",
"transcript": "XM_011515004.4",
"protein_id": "XP_011513306.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5249,
"cds_end": null,
"cds_length": 5886,
"cdna_start": 5338,
"cdna_end": null,
"cdna_length": 6633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5126G>A",
"hgvs_p": "p.Ser1709Asn",
"transcript": "XM_005249497.5",
"protein_id": "XP_005249554.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 5466,
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"cdna_length": 6761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5123G>A",
"hgvs_p": "p.Ser1708Asn",
"transcript": "XM_047419585.1",
"protein_id": "XP_047275541.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 1919,
"cds_start": 5123,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 5302,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5063G>A",
"hgvs_p": "p.Ser1688Asn",
"transcript": "XM_047419586.1",
"protein_id": "XP_047275542.1",
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"aa_start": 1688,
"aa_end": null,
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"cds_start": 5063,
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"cdna_start": 5099,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4904G>A",
"hgvs_p": "p.Ser1635Asn",
"transcript": "XM_005249498.5",
"protein_id": "XP_005249555.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4904,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 5244,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4904G>A",
"hgvs_p": "p.Ser1635Asn",
"transcript": "XM_047419587.1",
"protein_id": "XP_047275543.1",
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"cdna_start": 5083,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4901G>A",
"hgvs_p": "p.Ser1634Asn",
"transcript": "XM_017011522.3",
"protein_id": "XP_016867011.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4901,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 5080,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4841G>A",
"hgvs_p": "p.Ser1614Asn",
"transcript": "XM_047419588.1",
"protein_id": "XP_047275544.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4841,
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"cdna_start": 4877,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4838G>A",
"hgvs_p": "p.Ser1613Asn",
"transcript": "XM_047419589.1",
"protein_id": "XP_047275545.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "n.615G>A",
"hgvs_p": null,
"transcript": "ENST00000489540.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDC1-AS1",
"gene_hgnc_id": 39764,
"hgvs_c": "n.127+274C>T",
"hgvs_p": null,
"transcript": "ENST00000442150.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDC1-AS1",
"gene_hgnc_id": 39764,
"hgvs_c": "n.127+274C>T",
"hgvs_p": null,
"transcript": "NR_133647.1",
"protein_id": null,
"transcript_support_level": null,
"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": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"dbsnp": "rs376836775",
"frequency_reference_population": 0.00016728936,
"hom_count_reference_population": 8,
"allele_count_reference_population": 270,
"gnomad_exomes_af": 0.000167612,
"gnomad_genomes_af": 0.000164189,
"gnomad_exomes_ac": 245,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008819639682769775,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.197,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014641.3",
"gene_symbol": "MDC1",
"hgnc_id": 21163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5633G>A",
"hgvs_p": "p.Ser1878Asn"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000442150.1",
"gene_symbol": "MDC1-AS1",
"hgnc_id": 39764,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127+274C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}