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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: 6-83181729-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83181729&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83181729,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001199917.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "NM_015599.3",
"protein_id": "NP_056414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000513973.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015599.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000513973.6",
"protein_id": "ENSP00000424874.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015599.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513973.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000512866.5",
"protein_id": "ENSP00000421565.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512866.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.544+7C>T",
"hgvs_p": null,
"transcript": "ENST00000283977.9",
"protein_id": "ENSP00000283977.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283977.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.871+7C>T",
"hgvs_p": null,
"transcript": "NM_001199917.2",
"protein_id": "NP_001186846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199917.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.871+7C>T",
"hgvs_p": null,
"transcript": "NM_001367287.1",
"protein_id": "NP_001354216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.871+7C>T",
"hgvs_p": null,
"transcript": "ENST00000506587.5",
"protein_id": "ENSP00000425809.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506587.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.871+7C>T",
"hgvs_p": null,
"transcript": "ENST00000508748.6",
"protein_id": "ENSP00000424865.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508748.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "NM_001199919.2",
"protein_id": "NP_001186848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199919.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000509219.2",
"protein_id": "ENSP00000423389.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509219.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000652468.1",
"protein_id": "ENSP00000499112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652468.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000925376.1",
"protein_id": "ENSP00000595435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000507554.2",
"protein_id": "ENSP00000425558.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507554.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000925371.1",
"protein_id": "ENSP00000595430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000925372.1",
"protein_id": "ENSP00000595431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000925377.1",
"protein_id": "ENSP00000595436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000941524.1",
"protein_id": "ENSP00000611583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000941528.1",
"protein_id": "ENSP00000611587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
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"cds_length": 1629,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941528.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000941531.1",
"protein_id": "ENSP00000611590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.781+7C>T",
"hgvs_p": null,
"transcript": "ENST00000941527.1",
"protein_id": "ENSP00000611586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
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"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.787+7C>T",
"hgvs_p": null,
"transcript": "ENST00000941529.1",
"protein_id": "ENSP00000611588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.778+7C>T",
"hgvs_p": null,
"transcript": "ENST00000925375.1",
"protein_id": "ENSP00000595434.1",
"transcript_support_level": null,
"aa_start": null,
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}
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}