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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: 5-88196456-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88196456&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 88196456,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349407.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "NM_153354.5",
"protein_id": "NP_699185.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 487,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296595.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153354.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "ENST00000296595.11",
"protein_id": "ENSP00000296595.6",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 487,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153354.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296595.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*5496A>G",
"hgvs_p": null,
"transcript": "ENST00000510089.5",
"protein_id": "ENSP00000423380.1",
"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": "ENST00000510089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*953A>G",
"hgvs_p": null,
"transcript": "ENST00000511087.5",
"protein_id": "ENSP00000421805.1",
"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": "ENST00000511087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*5496A>G",
"hgvs_p": null,
"transcript": "ENST00000510089.5",
"protein_id": "ENSP00000423380.1",
"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": "ENST00000510089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*953A>G",
"hgvs_p": null,
"transcript": "ENST00000511087.5",
"protein_id": "ENSP00000421805.1",
"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": "ENST00000511087.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "NM_001349407.2",
"protein_id": "NP_001336336.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 534,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349407.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "NM_001289007.2",
"protein_id": "NP_001275936.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 502,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289007.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "ENST00000514135.5",
"protein_id": "ENSP00000426354.1",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 502,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514135.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Ile398Val",
"transcript": "ENST00000934279.1",
"protein_id": "ENSP00000604338.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 478,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934279.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "NM_001289008.2",
"protein_id": "NP_001275937.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 476,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289008.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "ENST00000512429.5",
"protein_id": "ENSP00000421498.1",
"transcript_support_level": 2,
"aa_start": 396,
"aa_end": null,
"aa_length": 476,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512429.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "ENST00000934280.1",
"protein_id": "ENSP00000604339.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 473,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934280.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Ile225Val",
"transcript": "NM_001349400.2",
"protein_id": "NP_001336329.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 305,
"cds_start": 673,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349400.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Ile225Val",
"transcript": "NM_001349402.2",
"protein_id": "NP_001336331.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 305,
"cds_start": 673,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349402.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Ile225Val",
"transcript": "NM_001349403.2",
"protein_id": "NP_001336332.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 305,
"cds_start": 673,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349403.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Ile225Val",
"transcript": "NM_001349405.2",
"protein_id": "NP_001336334.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 305,
"cds_start": 673,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349405.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Ile198Val",
"transcript": "ENST00000511218.5",
"protein_id": "ENSP00000425991.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 278,
"cds_start": 592,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511218.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Ile434Val",
"transcript": "XM_024454373.2",
"protein_id": "XP_024310141.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 561,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454373.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "XM_024454375.2",
"protein_id": "XP_024310143.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 476,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454375.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "XM_047416808.1",
"protein_id": "XP_047272764.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 476,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416808.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.838A>G",
"hgvs_p": "p.Ile280Val",
"transcript": "XM_047416809.1",
"protein_id": "XP_047272765.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 360,
"cds_start": 838,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
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}
],
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}