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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: 9-133414980-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133414980&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133414980,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020385.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"transcript": "NM_020385.4",
"protein_id": "NP_065118.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 422,
"cds_start": 257,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": "ENST00000371942.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020385.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"transcript": "ENST00000371942.8",
"protein_id": "ENSP00000361010.3",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 422,
"cds_start": 257,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": "NM_020385.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371942.8"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.287+336T>C",
"hgvs_p": null,
"transcript": "ENST00000485925.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485925.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Glu94Gly",
"transcript": "ENST00000903994.1",
"protein_id": "ENSP00000574053.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 430,
"cds_start": 281,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903994.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"transcript": "ENST00000903993.1",
"protein_id": "ENSP00000574052.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 428,
"cds_start": 257,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903993.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"transcript": "ENST00000903991.1",
"protein_id": "ENSP00000574050.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 420,
"cds_start": 257,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903991.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"transcript": "ENST00000903992.1",
"protein_id": "ENSP00000574051.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 397,
"cds_start": 257,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903992.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"transcript": "XM_047423608.1",
"protein_id": "XP_047279564.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 242,
"cds_start": 257,
"cds_end": null,
"cds_length": 729,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.-23A>G",
"hgvs_p": null,
"transcript": "NM_001279351.1",
"protein_id": "NP_001266280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.-23A>G",
"hgvs_p": null,
"transcript": "ENST00000445916.1",
"protein_id": "ENSP00000391534.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.226-23A>G",
"hgvs_p": null,
"transcript": "ENST00000903990.1",
"protein_id": "ENSP00000574049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.-8-147A>G",
"hgvs_p": null,
"transcript": "NM_001279350.2",
"protein_id": "NP_001266279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279350.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.226-147A>G",
"hgvs_p": null,
"transcript": "NM_001279349.2",
"protein_id": "NP_001266278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279349.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.226-147A>G",
"hgvs_p": null,
"transcript": "ENST00000371935.6",
"protein_id": "ENSP00000361003.2",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371935.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.226-147A>G",
"hgvs_p": null,
"transcript": "ENST00000454825.1",
"protein_id": "ENSP00000394229.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 700,
"cdna_start": null,
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"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454825.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.-8-147A>G",
"hgvs_p": null,
"transcript": "XM_024447611.2",
"protein_id": "XP_024303379.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447611.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.-8-147A>G",
"hgvs_p": null,
"transcript": "XM_024447612.2",
"protein_id": "XP_024303380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447612.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.341-147A>G",
"hgvs_p": null,
"transcript": "ENST00000478037.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478037.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.336-2059A>G",
"hgvs_p": null,
"transcript": "ENST00000494045.5",
"protein_id": null,
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"aa_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000494045.5"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.308+336T>C",
"hgvs_p": null,
"transcript": "NR_024514.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2974,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_024514.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.392-2059A>G",
"hgvs_p": null,
"transcript": "NR_103995.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103995.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.392-2059A>G",
"hgvs_p": null,
"transcript": "NR_103996.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103996.2"
}
],
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"dbsnp": "rs782516075",
"frequency_reference_population": 0.000019443149,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000201075,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12494087219238281,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.073,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.632,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_020385.4",
"gene_symbol": "REXO4",
"hgnc_id": 12820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000485925.5",
"gene_symbol": "ADAMTS13",
"hgnc_id": 1366,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.287+336T>C",
"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
}