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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: 9-127825362-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127825362&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127825362,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000373203.9",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "NM_001114753.3",
"protein_id": "NP_001108225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "ENST00000373203.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000373203.9",
"protein_id": "ENSP00000362299.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "NM_001114753.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000344849.5",
"protein_id": "ENSP00000341917.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000714079.1",
"protein_id": "ENSP00000519370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000714126.1",
"protein_id": "ENSP00000519416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "n.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000714103.1",
"protein_id": "ENSP00000519395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "n.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000714103.1",
"protein_id": "ENSP00000519395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000714079.1",
"protein_id": "ENSP00000519370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000714126.1",
"protein_id": "ENSP00000519416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "n.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000714103.1",
"protein_id": "ENSP00000519395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000714047.1",
"protein_id": "ENSP00000519338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000713997.1",
"protein_id": "ENSP00000519287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": -4,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000714082.1",
"protein_id": "ENSP00000519373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000714046.1",
"protein_id": "ENSP00000519337.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000714077.1",
"protein_id": "ENSP00000519368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000714084.1",
"protein_id": "ENSP00000519375.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "NM_000118.4",
"protein_id": "NP_000109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000714102.1",
"protein_id": "ENSP00000519394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": -4,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
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"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.690-5C>T",
"hgvs_p": null,
"transcript": "ENST00000714076.1",
"protein_id": "ENSP00000519367.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 597,
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"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.339-5C>T",
"hgvs_p": null,
"transcript": "ENST00000713957.1",
"protein_id": "ENSP00000519250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.144-5C>T",
"hgvs_p": null,
"transcript": "NM_001278138.2",
"protein_id": "NP_001265067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.144-5C>T",
"hgvs_p": null,
"transcript": "ENST00000480266.7",
"protein_id": "ENSP00000479015.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.144-5C>T",
"hgvs_p": null,
"transcript": "ENST00000713956.1",
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],
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"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.095,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000625460776363249,
"dbscsnv_ada_prediction": "Benign",
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"acmg_score": -16,
"acmg_classification": "Benign",
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{
"score": -16,
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"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000373203.9",
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"hgnc_id": 3349,
"effects": [
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],
"clinvar_disease": "Cardiovascular phenotype,Hereditary hemorrhagic telangiectasia,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Hereditary hemorrhagic telangiectasia|not specified|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}