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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: 9-32480253-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=32480253&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 32480253,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_014314.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>C",
"hgvs_p": "p.Asp580Asp",
"transcript": "NM_014314.4",
"protein_id": "NP_055129.2",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 925,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379883.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014314.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>C",
"hgvs_p": "p.Asp580Asp",
"transcript": "ENST00000379883.3",
"protein_id": "ENSP00000369213.2",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 925,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014314.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379883.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "c.1590T>C",
"hgvs_p": "p.Asp530Asp",
"transcript": "ENST00000681750.1",
"protein_id": "ENSP00000506413.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 875,
"cds_start": 1590,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681750.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.Asp579Asp",
"transcript": "ENST00000715271.1",
"protein_id": "ENSP00000520440.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 924,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715271.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.Asp579Asp",
"transcript": "ENST00000896060.1",
"protein_id": "ENSP00000566119.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 924,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896060.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1734T>C",
"hgvs_p": "p.Asp578Asp",
"transcript": "NM_001385907.1",
"protein_id": "NP_001372836.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 923,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385907.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1734T>C",
"hgvs_p": "p.Asp578Asp",
"transcript": "ENST00000715270.1",
"protein_id": "ENSP00000520439.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 923,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715270.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1725T>C",
"hgvs_p": "p.Asp575Asp",
"transcript": "NM_001385913.1",
"protein_id": "NP_001372842.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 920,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385913.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1725T>C",
"hgvs_p": "p.Asp575Asp",
"transcript": "ENST00000896059.1",
"protein_id": "ENSP00000566118.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 920,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896059.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1605T>C",
"hgvs_p": "p.Asp535Asp",
"transcript": "ENST00000379868.6",
"protein_id": "ENSP00000369197.2",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 880,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379868.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1602T>C",
"hgvs_p": "p.Asp534Asp",
"transcript": "ENST00000932231.1",
"protein_id": "ENSP00000602290.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 879,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932231.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>C",
"hgvs_p": "p.Asp580Asp",
"transcript": "ENST00000969568.1",
"protein_id": "ENSP00000639627.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 877,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969568.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>C",
"hgvs_p": "p.Asp580Asp",
"transcript": "NM_001385909.1",
"protein_id": "NP_001372838.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 868,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385909.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>C",
"hgvs_p": "p.Asp580Asp",
"transcript": "ENST00000896058.1",
"protein_id": "ENSP00000566117.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 868,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896058.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1527T>C",
"hgvs_p": "p.Asp509Asp",
"transcript": "ENST00000679665.1",
"protein_id": "ENSP00000504921.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 854,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679665.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1299T>C",
"hgvs_p": "p.Asp433Asp",
"transcript": "NM_001385910.1",
"protein_id": "NP_001372839.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 778,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385910.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1296T>C",
"hgvs_p": "p.Asp432Asp",
"transcript": "NM_001385914.1",
"protein_id": "NP_001372843.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 777,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385914.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1131T>C",
"hgvs_p": "p.Asp377Asp",
"transcript": "NM_001385912.1",
"protein_id": "NP_001372841.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 722,
"cds_start": 1131,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385912.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.525T>C",
"hgvs_p": "p.Asp175Asp",
"transcript": "ENST00000896061.1",
"protein_id": "ENSP00000566120.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 520,
"cds_start": 525,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.424-7188T>C",
"hgvs_p": null,
"transcript": "ENST00000679859.1",
"protein_id": "ENSP00000505702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*1163T>C",
"hgvs_p": null,
"transcript": "ENST00000679771.1",
"protein_id": "ENSP00000505015.1",
"transcript_support_level": null,
"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": "ENST00000679771.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "n.*1508T>C",
"hgvs_p": null,
"transcript": "ENST00000680198.1",
"protein_id": "ENSP00000505143.1",
"transcript_support_level": null,
"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,
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{
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"BP7"
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"verdict": "Likely_benign",
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{
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{
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"verdict": "Uncertain_significance",
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],
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"custom_annotations": null
}
],
"message": null
}