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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: 1-176043256-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=176043256&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 176043256,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022457.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1542G>A",
"hgvs_p": "p.Lys514Lys",
"transcript": "NM_022457.7",
"protein_id": "NP_071902.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 731,
"cds_start": 1542,
"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": "K",
"aa_alt": "K",
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1542G>A",
"hgvs_p": "p.Lys514Lys",
"transcript": "ENST00000367669.8",
"protein_id": "ENSP00000356641.3",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 731,
"cds_start": 1542,
"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": "K",
"aa_alt": "K",
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Lys490Lys",
"transcript": "ENST00000308769.12",
"protein_id": "ENSP00000310943.8",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 707,
"cds_start": 1470,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*718G>A",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*718G>A",
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Lys567Lys",
"transcript": "ENST00000935470.1",
"protein_id": "ENSP00000605529.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 784,
"cds_start": 1701,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1659G>A",
"hgvs_p": "p.Lys553Lys",
"transcript": "ENST00000896361.1",
"protein_id": "ENSP00000566420.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 770,
"cds_start": 1659,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1647G>A",
"hgvs_p": "p.Lys549Lys",
"transcript": "ENST00000896366.1",
"protein_id": "ENSP00000566425.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 766,
"cds_start": 1647,
"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": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Lys533Lys",
"transcript": "ENST00000896371.1",
"protein_id": "ENSP00000566430.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 750,
"cds_start": 1599,
"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": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Lys530Lys",
"transcript": "ENST00000896378.1",
"protein_id": "ENSP00000566437.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 747,
"cds_start": 1590,
"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": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1587G>A",
"hgvs_p": "p.Lys529Lys",
"transcript": "ENST00000896368.1",
"protein_id": "ENSP00000566427.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 746,
"cds_start": 1587,
"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": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Lys513Lys",
"transcript": "ENST00000935466.1",
"protein_id": "ENSP00000605525.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 730,
"cds_start": 1539,
"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": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1542G>A",
"hgvs_p": "p.Lys514Lys",
"transcript": "ENST00000935468.1",
"protein_id": "ENSP00000605527.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 730,
"cds_start": 1542,
"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": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1533G>A",
"hgvs_p": "p.Lys511Lys",
"transcript": "ENST00000942110.1",
"protein_id": "ENSP00000612169.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 728,
"cds_start": 1533,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942110.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1530G>A",
"hgvs_p": "p.Lys510Lys",
"transcript": "ENST00000896357.1",
"protein_id": "ENSP00000566416.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 727,
"cds_start": 1530,
"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": "K",
"aa_alt": "K",
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1530G>A",
"hgvs_p": "p.Lys510Lys",
"transcript": "ENST00000896374.1",
"protein_id": "ENSP00000566433.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 727,
"cds_start": 1530,
"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": "ENST00000896374.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Lys509Lys",
"transcript": "ENST00000896373.1",
"protein_id": "ENSP00000566432.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 726,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896373.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1542G>A",
"hgvs_p": "p.Lys514Lys",
"transcript": "ENST00000935471.1",
"protein_id": "ENSP00000605530.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 716,
"cds_start": 1542,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935471.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1482G>A",
"hgvs_p": "p.Lys494Lys",
"transcript": "ENST00000896367.1",
"protein_id": "ENSP00000566426.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 711,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896367.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1473G>A",
"hgvs_p": "p.Lys491Lys",
"transcript": "ENST00000896363.1",
"protein_id": "ENSP00000566422.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 708,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896363.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Lys490Lys",
"transcript": "NM_001001740.4",
"protein_id": "NP_001001740.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 707,
"cds_start": 1470,
"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": "K",
"aa_alt": "K",
"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": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Lys490Lys",
"transcript": "ENST00000896360.1",
"protein_id": "ENSP00000566419.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 707,
"cds_start": 1470,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
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{
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{
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{
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{
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{
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],
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{
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{
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],
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],
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"dbsnp": "rs1041415266",
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"computational_score_selected": 0.2879999876022339,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.288,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.946,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -8,
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"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022457.7",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}