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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: 6-130869673-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130869673&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 130869673,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350299.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "NM_001431.4",
"protein_id": "NP_001422.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337057.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001431.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "ENST00000337057.8",
"protein_id": "ENSP00000338481.3",
"transcript_support_level": 1,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001431.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337057.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.631G>T",
"hgvs_p": "p.Ala211Ser",
"transcript": "ENST00000524581.5",
"protein_id": "ENSP00000437207.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 383,
"cds_start": 631,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524581.5"
},
{
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-2092G>T",
"hgvs_p": null,
"transcript": "ENST00000528282.5",
"protein_id": "ENSP00000434308.1",
"transcript_support_level": 1,
"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": "ENST00000528282.5"
},
{
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-5955G>T",
"hgvs_p": null,
"transcript": "ENST00000392427.7",
"protein_id": "ENSP00000376222.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392427.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2653G>T",
"hgvs_p": "p.Ala885Ser",
"transcript": "NM_001350299.2",
"protein_id": "NP_001337228.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350299.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2653G>T",
"hgvs_p": "p.Ala885Ser",
"transcript": "ENST00000706365.1",
"protein_id": "ENSP00000516350.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706365.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2626G>T",
"hgvs_p": "p.Ala876Ser",
"transcript": "ENST00000922900.1",
"protein_id": "ENSP00000592959.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2626,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922900.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2599G>T",
"hgvs_p": "p.Ala867Ser",
"transcript": "ENST00000904972.1",
"protein_id": "ENSP00000575031.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904972.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2599G>T",
"hgvs_p": "p.Ala867Ser",
"transcript": "ENST00000904992.1",
"protein_id": "ENSP00000575051.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904992.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2590G>T",
"hgvs_p": "p.Ala864Ser",
"transcript": "ENST00000922891.1",
"protein_id": "ENSP00000592950.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922891.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2590G>T",
"hgvs_p": "p.Ala864Ser",
"transcript": "ENST00000922899.1",
"protein_id": "ENSP00000592958.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922899.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2653G>T",
"hgvs_p": "p.Ala885Ser",
"transcript": "NM_001350301.2",
"protein_id": "NP_001337230.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350301.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2551G>T",
"hgvs_p": "p.Ala851Ser",
"transcript": "ENST00000904970.1",
"protein_id": "ENSP00000575029.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2551,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904970.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2551G>T",
"hgvs_p": "p.Ala851Ser",
"transcript": "ENST00000904976.1",
"protein_id": "ENSP00000575035.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2551,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904976.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2551G>T",
"hgvs_p": "p.Ala851Ser",
"transcript": "ENST00000904997.1",
"protein_id": "ENSP00000575056.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2551,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904997.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "NM_001350302.2",
"protein_id": "NP_001337231.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350302.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "ENST00000368128.6",
"protein_id": "ENSP00000357110.2",
"transcript_support_level": 5,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368128.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "ENST00000904971.1",
"protein_id": "ENSP00000575030.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904971.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "ENST00000904989.1",
"protein_id": "ENSP00000575048.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904989.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "ENST00000905001.1",
"protein_id": "ENSP00000575060.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905001.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Ala833Ser",
"transcript": "ENST00000969086.1",
"protein_id": "ENSP00000639145.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1005,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_score": 0.019,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
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"acmg_by_gene": [
{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001350299.2",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}