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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: 7-107185827-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107185827&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107185827,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001244262.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "NM_012257.4",
"protein_id": "NP_036389.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222574.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012257.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000222574.9",
"protein_id": "ENSP00000222574.4",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012257.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222574.9"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "n.441C>G",
"hgvs_p": null,
"transcript": "ENST00000463202.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463202.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Thr152Ser",
"transcript": "NM_001244262.2",
"protein_id": "NP_001231191.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 524,
"cds_start": 455,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244262.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Thr147Ser",
"transcript": "ENST00000895664.1",
"protein_id": "ENSP00000565723.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 519,
"cds_start": 440,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895664.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Thr147Ser",
"transcript": "ENST00000938516.1",
"protein_id": "ENSP00000608575.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 519,
"cds_start": 440,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938516.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "NM_001439011.1",
"protein_id": "NP_001425940.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439011.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "NM_001439012.1",
"protein_id": "NP_001425941.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439012.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "NM_001439013.1",
"protein_id": "NP_001425942.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439013.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000468410.5",
"protein_id": "ENSP00000420500.1",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468410.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000485846.5",
"protein_id": "ENSP00000418738.1",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485846.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000895657.1",
"protein_id": "ENSP00000565716.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895657.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000895660.1",
"protein_id": "ENSP00000565719.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895660.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000895662.1",
"protein_id": "ENSP00000565721.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895662.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000895669.1",
"protein_id": "ENSP00000565728.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895669.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000895670.1",
"protein_id": "ENSP00000565729.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895670.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000938515.1",
"protein_id": "ENSP00000608574.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938515.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000938517.1",
"protein_id": "ENSP00000608576.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938517.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000938518.1",
"protein_id": "ENSP00000608577.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938518.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000938519.1",
"protein_id": "ENSP00000608578.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938519.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000958454.1",
"protein_id": "ENSP00000628513.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958454.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBP1",
"gene_hgnc_id": 23200,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000958459.1",
"protein_id": "ENSP00000628518.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 514,
"cds_start": 425,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958459.1"
},
{
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"allele_count_reference_population": 0,
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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
}