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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: 1-176081294-G-GAAAAAAAAAAAAAAAAAACAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=176081294&ref=G&alt=GAAAAAAAAAAAAAAAAAACAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 176081294,
"ref": "G",
"alt": "GAAAAAAAAAAAAAAAAAACAA",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_022457.7",
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1142-8_1142-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_022457.7",
"protein_id": "NP_071902.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367669.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022457.7"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1142-8_1142-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000367669.8",
"protein_id": "ENSP00000356641.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022457.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367669.8"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1070-8_1070-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000308769.12",
"protein_id": "ENSP00000310943.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308769.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*318-8_*318-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000367667.5",
"protein_id": "ENSP00000356639.1",
"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": "ENST00000367667.5"
},
{
"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": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1301-8_1301-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935470.1",
"protein_id": "ENSP00000605529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": null,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935470.1"
},
{
"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": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1259-8_1259-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896361.1",
"protein_id": "ENSP00000566420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": null,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896361.1"
},
{
"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": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1247-8_1247-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896366.1",
"protein_id": "ENSP00000566425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896366.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1199-8_1199-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896371.1",
"protein_id": "ENSP00000566430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896371.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1190-8_1190-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896378.1",
"protein_id": "ENSP00000566437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": null,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896378.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1187-8_1187-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896368.1",
"protein_id": "ENSP00000566427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896368.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1139-8_1139-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935466.1",
"protein_id": "ENSP00000605525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935466.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1142-8_1142-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935468.1",
"protein_id": "ENSP00000605527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935468.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1133-8_1133-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000942110.1",
"protein_id": "ENSP00000612169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": null,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942110.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1130-8_1130-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896357.1",
"protein_id": "ENSP00000566416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896357.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1130-8_1130-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896374.1",
"protein_id": "ENSP00000566433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"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": "ENST00000896374.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1127-8_1127-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896373.1",
"protein_id": "ENSP00000566432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": null,
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"cds_length": 2181,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896373.1"
},
{
"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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1142-8_1142-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935471.1",
"protein_id": "ENSP00000605530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": null,
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"cds_length": 2151,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935471.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1082-8_1082-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896367.1",
"protein_id": "ENSP00000566426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896367.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1073-8_1073-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896363.1",
"protein_id": "ENSP00000566422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"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": "ENST00000896363.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1070-8_1070-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001001740.4",
"protein_id": "NP_001001740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001740.4"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1070-8_1070-7insTTGTTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000896360.1",
"protein_id": "ENSP00000566419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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}
],
"message": null
}