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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: 6-157206348-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157206348&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157206348,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438482.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5576A>C",
"hgvs_p": "p.Glu1859Ala",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 1859,
"aa_end": null,
"aa_length": 2372,
"cds_start": 5576,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 5879,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374828.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5576A>C",
"hgvs_p": "p.Glu1859Ala",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 1859,
"aa_end": null,
"aa_length": 2372,
"cds_start": 5576,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 5879,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636930.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5456A>C",
"hgvs_p": "p.Glu1819Ala",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 1819,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5456,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6382,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346085.10"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5417A>C",
"hgvs_p": "p.Glu1806Ala",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2319,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350026.11"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2918A>C",
"hgvs_p": "p.Glu973Ala",
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": 973,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2918,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 3060,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637810.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5705A>C",
"hgvs_p": "p.Glu1902Ala",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2415,
"cds_start": 5705,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 6008,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438482.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5705A>C",
"hgvs_p": "p.Glu1902Ala",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2415,
"cds_start": 5705,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 5705,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637015.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5618A>C",
"hgvs_p": "p.Glu1873Ala",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 1873,
"aa_end": null,
"aa_length": 2386,
"cds_start": 5618,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 5921,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438483.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5558A>C",
"hgvs_p": "p.Glu1853Ala",
"transcript": "ENST00000938503.1",
"protein_id": "ENSP00000608562.1",
"transcript_support_level": null,
"aa_start": 1853,
"aa_end": null,
"aa_length": 2366,
"cds_start": 5558,
"cds_end": null,
"cds_length": 7101,
"cdna_start": 5657,
"cdna_end": null,
"cdna_length": 8568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938503.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5486A>C",
"hgvs_p": "p.Glu1829Ala",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5486,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 5789,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438485.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5486A>C",
"hgvs_p": "p.Glu1829Ala",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 1829,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5486,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 5486,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414678.8"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5459A>C",
"hgvs_p": "p.Glu1820Ala",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 2333,
"cds_start": 5459,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 5762,
"cdna_end": null,
"cdna_length": 10193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438486.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5456A>C",
"hgvs_p": "p.Glu1819Ala",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 1819,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5456,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6376,
"cdna_end": null,
"cdna_length": 10807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371656.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5456A>C",
"hgvs_p": "p.Glu1819Ala",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 1819,
"aa_end": null,
"aa_length": 2332,
"cds_start": 5456,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 5759,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374820.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5417A>C",
"hgvs_p": "p.Glu1806Ala",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2319,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 5720,
"cdna_end": null,
"cdna_length": 10151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017519.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5396A>C",
"hgvs_p": "p.Glu1799Ala",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 2312,
"cds_start": 5396,
"cds_end": null,
"cds_length": 6939,
"cdna_start": 5699,
"cdna_end": null,
"cdna_length": 10130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438487.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3077A>C",
"hgvs_p": "p.Glu1026Ala",
"transcript": "NM_001363725.2",
"protein_id": "NP_001350654.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1539,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 3466,
"cdna_end": null,
"cdna_length": 7897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363725.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3077A>C",
"hgvs_p": "p.Glu1026Ala",
"transcript": "ENST00000637904.1",
"protein_id": "ENSP00000490550.1",
"transcript_support_level": 5,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1539,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 3578,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637904.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2918A>C",
"hgvs_p": "p.Glu973Ala",
"transcript": "NM_001438488.1",
"protein_id": "NP_001425417.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2918,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 7738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438488.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2897A>C",
"hgvs_p": "p.Glu966Ala",
"transcript": "ENST00000635849.1",
"protein_id": "ENSP00000490948.1",
"transcript_support_level": 5,
"aa_start": 966,
"aa_end": null,
"aa_length": 1479,
"cds_start": 2897,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635849.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2528A>C",
"hgvs_p": "p.Glu843Ala",
"transcript": "ENST00000635957.1",
"protein_id": "ENSP00000490385.1",
"transcript_support_level": 5,
"aa_start": 843,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2528,
"cds_end": null,
"cds_length": 4048,
"cdna_start": 2528,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635957.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.5786A>C",
"hgvs_p": "p.Glu1929Ala",
"transcript": "XM_011535984.3",
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],
"gene_symbol": "ARID1B",
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"dbsnp": "rs149518409",
"frequency_reference_population": 0.0011628137,
"hom_count_reference_population": 23,
"allele_count_reference_population": 1877,
"gnomad_exomes_af": 0.000591015,
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"gnomad_exomes_ac": 864,
"gnomad_genomes_ac": 1013,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003617227077484131,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.051,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001438482.1",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5705A>C",
"hgvs_p": "p.Glu1902Ala"
}
],
"clinvar_disease": "Coffin-Siris syndrome 1,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:5",
"phenotype_combined": "not specified|Inborn genetic diseases|not provided|Coffin-Siris syndrome 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}