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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: 12-51920769-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51920769&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51920769,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000020.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "NM_000020.3",
"protein_id": "NP_000011.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000388922.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000020.3"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "ENST00000388922.9",
"protein_id": "ENSP00000373574.4",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000020.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388922.9"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1432delC",
"hgvs_p": "p.Leu478fs",
"transcript": "ENST00000550683.5",
"protein_id": "ENSP00000447884.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 517,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550683.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "ENST00000551576.6",
"protein_id": "ENSP00000455848.2",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551576.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1546delC",
"hgvs_p": "p.Leu516fs",
"transcript": "ENST00000910202.1",
"protein_id": "ENSP00000580261.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 555,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910202.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "NM_001077401.2",
"protein_id": "NP_001070869.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077401.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "NM_001406487.1",
"protein_id": "NP_001393416.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406487.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "ENST00000910197.1",
"protein_id": "ENSP00000580256.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910197.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "ENST00000910198.1",
"protein_id": "ENSP00000580257.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910198.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "ENST00000910203.1",
"protein_id": "ENSP00000580262.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910203.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1390delC",
"hgvs_p": "p.Leu464fs",
"transcript": "ENST00000910205.1",
"protein_id": "ENSP00000580264.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 503,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910205.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1387delC",
"hgvs_p": "p.Leu463fs",
"transcript": "ENST00000910201.1",
"protein_id": "ENSP00000580260.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 502,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910201.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1348delC",
"hgvs_p": "p.Leu450fs",
"transcript": "ENST00000942787.1",
"protein_id": "ENSP00000612846.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 489,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942787.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1297delC",
"hgvs_p": "p.Leu433fs",
"transcript": "ENST00000942786.1",
"protein_id": "ENSP00000612845.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 472,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942786.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1285delC",
"hgvs_p": "p.Leu429fs",
"transcript": "ENST00000713619.1",
"protein_id": "ENSP00000518916.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 468,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713619.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1234delC",
"hgvs_p": "p.Leu412fs",
"transcript": "NM_001406490.1",
"protein_id": "NP_001393419.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 451,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406490.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1192delC",
"hgvs_p": "p.Leu398fs",
"transcript": "ENST00000910200.1",
"protein_id": "ENSP00000580259.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 437,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910200.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1120delC",
"hgvs_p": "p.Leu374fs",
"transcript": "ENST00000547400.6",
"protein_id": "ENSP00000446724.2",
"transcript_support_level": 3,
"aa_start": 374,
"aa_end": null,
"aa_length": 413,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547400.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1078delC",
"hgvs_p": "p.Leu360fs",
"transcript": "NM_001406491.1",
"protein_id": "NP_001393420.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 399,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406491.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1078delC",
"hgvs_p": "p.Leu360fs",
"transcript": "NM_001406492.1",
"protein_id": "NP_001393421.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 399,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406492.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1078delC",
"hgvs_p": "p.Leu360fs",
"transcript": "ENST00000910199.1",
"protein_id": "ENSP00000580258.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 399,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910199.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1078delC",
"hgvs_p": "p.Leu360fs",
"transcript": "ENST00000942784.1",
"protein_id": "ENSP00000612843.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 399,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942784.1"
},
{
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],
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"computational_score_selected": null,
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"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": -2.072,
"phylop100way_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP5"
],
"verdict": "Pathogenic",
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"effects": [
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],
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],
"clinvar_disease": "Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}