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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: 7-30049342-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30049342&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30049342,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001197026.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "NM_001197026.2",
"protein_id": "NP_001183955.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 519,
"cds_start": 557,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 7774,
"mane_select": "ENST00000449726.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "ENST00000449726.6",
"protein_id": "ENSP00000397947.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 519,
"cds_start": 557,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 7774,
"mane_select": "NM_001197026.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "ENST00000440706.3",
"protein_id": "ENSP00000407802.2",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 519,
"cds_start": 557,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 7514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "ENST00000396257.6",
"protein_id": "ENSP00000379556.2",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 455,
"cds_start": 557,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "ENST00000258679.11",
"protein_id": "ENSP00000258679.7",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 440,
"cds_start": 557,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "NM_001197027.2",
"protein_id": "NP_001183956.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 459,
"cds_start": 557,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "ENST00000622102.4",
"protein_id": "ENSP00000484427.1",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 459,
"cds_start": 557,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "NM_001350973.2",
"protein_id": "NP_001337902.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 455,
"cds_start": 557,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "NM_001363473.1",
"protein_id": "NP_001350402.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 441,
"cds_start": 557,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "NM_032639.4",
"protein_id": "NP_116028.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 440,
"cds_start": 557,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "NM_001350974.2",
"protein_id": "NP_001337903.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 439,
"cds_start": 557,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "ENST00000396259.5",
"protein_id": "ENSP00000379558.1",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 439,
"cds_start": 557,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"transcript": "NM_001363474.1",
"protein_id": "NP_001350403.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 290,
"cds_start": 50,
"cds_end": null,
"cds_length": 873,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "XM_017012744.2",
"protein_id": "XP_016868233.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 491,
"cds_start": 557,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "XM_011515592.4",
"protein_id": "XP_011513894.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 475,
"cds_start": 557,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 14966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "XM_005249897.3",
"protein_id": "XP_005249954.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 459,
"cds_start": 557,
"cds_end": null,
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"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"transcript": "XM_011515596.3",
"protein_id": "XP_011513898.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 350,
"cds_start": 50,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 7121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "n.433C>A",
"hgvs_p": null,
"transcript": "ENST00000498106.1",
"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": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "n.*533C>A",
"hgvs_p": null,
"transcript": "ENST00000649443.1",
"protein_id": "ENSP00000497449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "n.2014C>A",
"hgvs_p": null,
"transcript": "ENST00000707142.1",
"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": 8856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.-100C>A",
"hgvs_p": null,
"transcript": "NM_001350975.2",
"protein_id": "NP_001337904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": -4,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "c.-100C>A",
"hgvs_p": null,
"transcript": "XM_017012746.2",
"protein_id": "XP_016868235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA8",
"gene_hgnc_id": 30037,
"hgvs_c": "n.*533C>A",
"hgvs_p": null,
"transcript": "ENST00000649443.1",
"protein_id": "ENSP00000497449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
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}
],
"gene_symbol": "PLEKHA8",
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"dbsnp": "rs1792222189",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6406732797622681,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.2594,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.816,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001197026.2",
"gene_symbol": "PLEKHA8",
"hgnc_id": 30037,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}