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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: 14-24238758-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24238758&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24238758,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001283022.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "NM_001002002.3",
"protein_id": "NP_001002002.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 348,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399440.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002002.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "ENST00000399440.7",
"protein_id": "ENSP00000382369.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 348,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001002002.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399440.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ile422Val",
"transcript": "ENST00000557854.5",
"protein_id": "ENSP00000454038.1",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 427,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557854.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Ile361Val",
"transcript": "ENST00000420554.6",
"protein_id": "ENSP00000392859.2",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 366,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420554.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "ENST00000355299.8",
"protein_id": "ENSP00000347449.4",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 348,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355299.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "ENST00000559836.5",
"protein_id": "ENSP00000453299.1",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 348,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559836.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Ile315Val",
"transcript": "ENST00000456667.7",
"protein_id": "ENSP00000405743.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 320,
"cds_start": 943,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456667.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*823A>G",
"hgvs_p": null,
"transcript": "ENST00000559287.5",
"protein_id": "ENSP00000453594.1",
"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": "ENST00000559287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*1132A>G",
"hgvs_p": null,
"transcript": "ENST00000561038.5",
"protein_id": "ENSP00000452670.1",
"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": "ENST00000561038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*823A>G",
"hgvs_p": null,
"transcript": "ENST00000559287.5",
"protein_id": "ENSP00000453594.1",
"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": "ENST00000559287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*1132A>G",
"hgvs_p": null,
"transcript": "ENST00000561038.5",
"protein_id": "ENSP00000452670.1",
"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": "ENST00000561038.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ile422Val",
"transcript": "NM_001283022.2",
"protein_id": "NP_001269951.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 427,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283022.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Ile404Val",
"transcript": "NM_001351022.2",
"protein_id": "NP_001337951.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 409,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351022.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Ile404Val",
"transcript": "NM_001351023.2",
"protein_id": "NP_001337952.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 409,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351023.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Ile404Val",
"transcript": "ENST00000895698.1",
"protein_id": "ENSP00000565757.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 409,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895698.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Ile404Val",
"transcript": "ENST00000895699.1",
"protein_id": "ENSP00000565758.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 409,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895699.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Ile404Val",
"transcript": "ENST00000895707.1",
"protein_id": "ENSP00000565766.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 409,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895707.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Ile386Val",
"transcript": "ENST00000895702.1",
"protein_id": "ENSP00000565761.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 391,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895702.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Ile386Val",
"transcript": "ENST00000959777.1",
"protein_id": "ENSP00000629836.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 391,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959777.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Ile386Val",
"transcript": "ENST00000959778.1",
"protein_id": "ENSP00000629837.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 391,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959778.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ile368Val",
"transcript": "NM_001283021.2",
"protein_id": "NP_001269950.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 373,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283021.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Ile361Val",
"transcript": "NM_016576.5",
"protein_id": "NP_057660.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 366,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}