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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: 6-30703435-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30703435&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30703435,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014641.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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.5665G>A",
"hgvs_p": "p.Glu1889Lys",
"transcript": "NM_014641.3",
"protein_id": "NP_055456.2",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5665,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5705,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "ENST00000376406.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5665G>A",
"hgvs_p": "p.Glu1889Lys",
"transcript": "ENST00000376406.8",
"protein_id": "ENSP00000365588.3",
"transcript_support_level": 5,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5665,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5705,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "NM_014641.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5728G>A",
"hgvs_p": "p.Glu1910Lys",
"transcript": "XM_005249492.3",
"protein_id": "XP_005249549.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5728,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 6068,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5728G>A",
"hgvs_p": "p.Glu1910Lys",
"transcript": "XM_047419580.1",
"protein_id": "XP_047275536.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5728,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 5907,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5725G>A",
"hgvs_p": "p.Glu1909Lys",
"transcript": "XM_047419581.1",
"protein_id": "XP_047275537.1",
"transcript_support_level": null,
"aa_start": 1909,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5725,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 5904,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5665G>A",
"hgvs_p": "p.Glu1889Lys",
"transcript": "XM_005249494.6",
"protein_id": "XP_005249551.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5665,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5701,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5665G>A",
"hgvs_p": "p.Glu1889Lys",
"transcript": "XM_011515003.4",
"protein_id": "XP_011513305.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5665,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5912,
"cdna_end": null,
"cdna_length": 7175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5665G>A",
"hgvs_p": "p.Glu1889Lys",
"transcript": "XM_047419582.1",
"protein_id": "XP_047275538.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5665,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5825,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5665G>A",
"hgvs_p": "p.Glu1889Lys",
"transcript": "XM_047419583.1",
"protein_id": "XP_047275539.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5665,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5986,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5665G>A",
"hgvs_p": "p.Glu1889Lys",
"transcript": "XM_047419584.1",
"protein_id": "XP_047275540.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5665,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5751,
"cdna_end": null,
"cdna_length": 7014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5281G>A",
"hgvs_p": "p.Glu1761Lys",
"transcript": "XM_011515004.4",
"protein_id": "XP_011513306.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5281,
"cds_end": null,
"cds_length": 5886,
"cdna_start": 5370,
"cdna_end": null,
"cdna_length": 6633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5158G>A",
"hgvs_p": "p.Glu1720Lys",
"transcript": "XM_005249497.5",
"protein_id": "XP_005249554.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 5498,
"cdna_end": null,
"cdna_length": 6761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5155G>A",
"hgvs_p": "p.Glu1719Lys",
"transcript": "XM_047419585.1",
"protein_id": "XP_047275541.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1919,
"cds_start": 5155,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 5334,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.5095G>A",
"hgvs_p": "p.Glu1699Lys",
"transcript": "XM_047419586.1",
"protein_id": "XP_047275542.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5095,
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"cdna_start": 5131,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.4936G>A",
"hgvs_p": "p.Glu1646Lys",
"transcript": "XM_005249498.5",
"protein_id": "XP_005249555.1",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4936,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 5276,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.4936G>A",
"hgvs_p": "p.Glu1646Lys",
"transcript": "XM_047419587.1",
"protein_id": "XP_047275543.1",
"transcript_support_level": null,
"aa_start": 1646,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
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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.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "XM_017011522.3",
"protein_id": "XP_016867011.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4933,
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"cds_length": 5538,
"cdna_start": 5112,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.4873G>A",
"hgvs_p": "p.Glu1625Lys",
"transcript": "XM_047419588.1",
"protein_id": "XP_047275544.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4873,
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"cds_length": 5478,
"cdna_start": 4909,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"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.4870G>A",
"hgvs_p": "p.Glu1624Lys",
"transcript": "XM_047419589.1",
"protein_id": "XP_047275545.1",
"transcript_support_level": null,
"aa_start": 1624,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.647G>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,
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"cdna_length": 1402,
"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+242C>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+242C>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": "rs1270731396",
"frequency_reference_population": 0.000008055252,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000615732,
"gnomad_genomes_af": 0.0000262847,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15594807267189026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.1881,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.833,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014641.3",
"gene_symbol": "MDC1",
"hgnc_id": 21163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5665G>A",
"hgvs_p": "p.Glu1889Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442150.1",
"gene_symbol": "MDC1-AS1",
"hgnc_id": 39764,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127+242C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}