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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: 6-158158275-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158158275&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158158275,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000647468.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "NM_032861.4",
"protein_id": "NP_116250.3",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 654,
"cds_start": 89,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "ENST00000647468.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "ENST00000647468.2",
"protein_id": "ENSP00000496731.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 654,
"cds_start": 89,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "NM_032861.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000606965.5",
"protein_id": "ENSP00000475808.1",
"transcript_support_level": 1,
"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": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000607742.5",
"protein_id": "ENSP00000475523.1",
"transcript_support_level": 1,
"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": 5155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "ENST00000642244.1",
"protein_id": "ENSP00000493554.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 624,
"cds_start": 89,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "ENST00000644972.1",
"protein_id": "ENSP00000496451.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 622,
"cds_start": 89,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "ENST00000646410.1",
"protein_id": "ENSP00000494205.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 611,
"cds_start": 89,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "ENST00000642903.1",
"protein_id": "ENSP00000493559.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 587,
"cds_start": 89,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "ENST00000646208.1",
"protein_id": "ENSP00000493723.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 566,
"cds_start": 89,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "ENST00000367101.5",
"protein_id": "ENSP00000356068.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 531,
"cds_start": 89,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr",
"transcript": "XM_024446573.2",
"protein_id": "XP_024302341.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 654,
"cds_start": 89,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.-85T>C",
"hgvs_p": null,
"transcript": "XM_006715586.4",
"protein_id": "XP_006715649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.105T>C",
"hgvs_p": "p.Tyr35Tyr",
"transcript": "XM_047419421.1",
"protein_id": "XP_047275377.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 647,
"cds_start": 105,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.1024T>C",
"hgvs_p": null,
"transcript": "ENST00000607000.1",
"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": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000607071.6",
"protein_id": "ENSP00000475855.1",
"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": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000645077.1",
"protein_id": "ENSP00000496113.1",
"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": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000645172.1",
"protein_id": "ENSP00000495367.1",
"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": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.1357T>C",
"hgvs_p": null,
"transcript": "ENST00000646190.1",
"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": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000646562.1",
"protein_id": "ENSP00000496087.1",
"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": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.89T>C",
"hgvs_p": null,
"transcript": "ENST00000648111.1",
"protein_id": "ENSP00000497275.1",
"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": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.213T>C",
"hgvs_p": null,
"transcript": "NR_073096.2",
"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": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.290T>C",
"hgvs_p": null,
"transcript": "XR_007059349.1",
"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": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.-85T>C",
"hgvs_p": null,
"transcript": "XM_006715586.4",
"protein_id": "XP_006715649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"dbsnp": "rs34270473",
"frequency_reference_population": 0.0017947363,
"hom_count_reference_population": 49,
"allele_count_reference_population": 2866,
"gnomad_exomes_af": 0.000969121,
"gnomad_genomes_af": 0.00962675,
"gnomad_exomes_ac": 1400,
"gnomad_genomes_ac": 1466,
"gnomad_exomes_homalt": 23,
"gnomad_genomes_homalt": 26,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004340022802352905,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.2927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.58,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000425431292233273,
"dbscsnv_ada_prediction": "Benign",
"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": "ENST00000647468.2",
"gene_symbol": "SERAC1",
"hgnc_id": 21061,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Ile30Thr"
}
],
"clinvar_disease": " and Leigh-like syndrome, encephalopathy,3-methylglutaconic aciduria with deafness,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}