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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: 17-75640297-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75640297&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75640297,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001162995.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "NM_001162995.3",
"protein_id": "NP_001156467.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375215.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162995.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000375215.3",
"protein_id": "ENSP00000364363.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001162995.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375215.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000537494.1",
"protein_id": "ENSP00000477017.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537494.1"
},
{
"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": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1230-8629G>C",
"hgvs_p": null,
"transcript": "NM_004259.7",
"protein_id": "NP_004250.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": null,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317905.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004259.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1230-8629G>C",
"hgvs_p": null,
"transcript": "ENST00000317905.10",
"protein_id": "ENSP00000317636.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": null,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004259.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317905.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1149-8629G>C",
"hgvs_p": null,
"transcript": "ENST00000423245.6",
"protein_id": "ENSP00000394820.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": null,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423245.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910959.1",
"protein_id": "ENSP00000581018.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910959.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910960.1",
"protein_id": "ENSP00000581019.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910960.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910961.1",
"protein_id": "ENSP00000581020.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910961.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910962.1",
"protein_id": "ENSP00000581021.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910962.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910963.1",
"protein_id": "ENSP00000581022.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910963.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910964.1",
"protein_id": "ENSP00000581023.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910964.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910965.1",
"protein_id": "ENSP00000581024.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910965.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910966.1",
"protein_id": "ENSP00000581025.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910966.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910967.1",
"protein_id": "ENSP00000581026.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910967.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910968.1",
"protein_id": "ENSP00000581027.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910968.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000910969.1",
"protein_id": "ENSP00000581028.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910969.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000941300.1",
"protein_id": "ENSP00000611359.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941300.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000941301.1",
"protein_id": "ENSP00000611360.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941301.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000941302.1",
"protein_id": "ENSP00000611361.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941302.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000941303.1",
"protein_id": "ENSP00000611362.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941303.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met",
"transcript": "ENST00000941304.1",
"protein_id": "ENSP00000611363.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 77,
"cds_start": 96,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941304.1"
},
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "n.*124-8629G>C",
"hgvs_p": null,
"transcript": "ENST00000582464.5",
"protein_id": "ENSP00000462077.1",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000582464.5"
}
],
"gene_symbol": "SMIM5",
"gene_hgnc_id": 40030,
"dbsnp": "rs992815378",
"frequency_reference_population": 0.000018700242,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000193044,
"gnomad_genomes_af": 0.0000131458,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08097514510154724,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.1152,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.043,
"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_001162995.3",
"gene_symbol": "SMIM5",
"hgnc_id": 40030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Ile32Met"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004259.7",
"gene_symbol": "RECQL5",
"hgnc_id": 9950,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1230-8629G>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
}