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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: 1-177933239-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=177933239&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 177933239,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001390834.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2798A>G",
"hgvs_p": "p.Asp933Gly",
"transcript": "NM_033127.4",
"protein_id": "NP_149118.2",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308284.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033127.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2798A>G",
"hgvs_p": "p.Asp933Gly",
"transcript": "ENST00000308284.11",
"protein_id": "ENSP00000308339.6",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033127.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308284.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "n.*1785A>G",
"hgvs_p": null,
"transcript": "ENST00000528461.5",
"protein_id": "ENSP00000475522.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528461.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "n.*1785A>G",
"hgvs_p": null,
"transcript": "ENST00000528461.5",
"protein_id": "ENSP00000475522.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528461.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2894A>G",
"hgvs_p": "p.Asp965Gly",
"transcript": "ENST00000870565.1",
"protein_id": "ENSP00000540624.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2894,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870565.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2891A>G",
"hgvs_p": "p.Asp964Gly",
"transcript": "ENST00000870557.1",
"protein_id": "ENSP00000540616.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2891,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870557.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2894A>G",
"hgvs_p": "p.Asp965Gly",
"transcript": "ENST00000870559.1",
"protein_id": "ENSP00000540618.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2894,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870559.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2891A>G",
"hgvs_p": "p.Asp964Gly",
"transcript": "ENST00000870560.1",
"protein_id": "ENSP00000540619.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2891,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870560.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "NM_001390834.1",
"protein_id": "NP_001377763.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001390834.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "NM_001390835.1",
"protein_id": "NP_001377764.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001390835.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870546.1",
"protein_id": "ENSP00000540605.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870546.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870554.1",
"protein_id": "ENSP00000540613.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870554.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870556.1",
"protein_id": "ENSP00000540615.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870556.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870558.1",
"protein_id": "ENSP00000540617.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870558.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870561.1",
"protein_id": "ENSP00000540620.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870561.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870566.1",
"protein_id": "ENSP00000540625.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870566.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL2P-SEC16B",
"gene_hgnc_id": 53757,
"hgvs_c": "c.2798A>G",
"hgvs_p": "p.Asp933Gly",
"transcript": "NM_001356505.2",
"protein_id": "NP_001343434.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001356505.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL2P-SEC16B",
"gene_hgnc_id": 53757,
"hgvs_c": "c.2798A>G",
"hgvs_p": "p.Asp933Gly",
"transcript": "NM_001356506.2",
"protein_id": "NP_001343435.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001356506.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2798A>G",
"hgvs_p": "p.Asp933Gly",
"transcript": "ENST00000870548.1",
"protein_id": "ENSP00000540607.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870548.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870549.1",
"protein_id": "ENSP00000540608.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870549.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2798A>G",
"hgvs_p": "p.Asp933Gly",
"transcript": "ENST00000870550.1",
"protein_id": "ENSP00000540609.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870550.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC16B",
"gene_hgnc_id": 30301,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Asp934Gly",
"transcript": "ENST00000870551.1",
"protein_id": "ENSP00000540610.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1061,
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{
"score": -2,
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"pathogenic_score": 2,
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"BP4_Strong"
],
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],
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{
"score": -2,
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],
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],
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],
"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
}