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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: 14-67473436-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67473436&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67473436,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001348541.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001348543.2",
"protein_id": "NP_001335472.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": "ENST00000554480.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348543.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000554480.6",
"protein_id": "ENSP00000450859.2",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": "NM_001348543.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554480.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.His207Arg",
"transcript": "NM_001348541.2",
"protein_id": "NP_001335470.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 211,
"cds_start": 620,
"cds_end": null,
"cds_length": 636,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348541.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001348542.2",
"protein_id": "NP_001335471.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348542.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001348544.2",
"protein_id": "NP_001335473.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348544.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001348546.2",
"protein_id": "NP_001335475.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348546.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001348547.2",
"protein_id": "NP_001335476.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348547.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001348548.2",
"protein_id": "NP_001335477.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348548.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001348549.2",
"protein_id": "NP_001335478.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348549.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_182526.3",
"protein_id": "NP_872332.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182526.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000357461.7",
"protein_id": "ENSP00000350050.2",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357461.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000554278.6",
"protein_id": "ENSP00000452402.2",
"transcript_support_level": 4,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554278.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000555994.6",
"protein_id": "ENSP00000452144.2",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000555994.6"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000557006.6",
"protein_id": "ENSP00000451774.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
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"cdna_start": 771,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557006.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000869894.1",
"protein_id": "ENSP00000539953.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 796,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869894.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000869895.1",
"protein_id": "ENSP00000539954.1",
"transcript_support_level": null,
"aa_start": 163,
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"aa_length": 167,
"cds_start": 488,
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"cdna_start": 935,
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"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869895.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000869896.1",
"protein_id": "ENSP00000539955.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869896.1"
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000869897.1",
"protein_id": "ENSP00000539956.1",
"transcript_support_level": null,
"aa_start": 163,
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"cdna_start": 842,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000869897.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000869898.1",
"protein_id": "ENSP00000539957.1",
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"cdna_start": 789,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869898.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000925695.1",
"protein_id": "ENSP00000595754.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000925695.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000925696.1",
"protein_id": "ENSP00000595755.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
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"cds_length": 504,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925696.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000925697.1",
"protein_id": "ENSP00000595756.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
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"cdna_start": 578,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
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{
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}