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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: 12-51915450-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51915450&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51915450,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000020.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "NM_000020.3",
"protein_id": "NP_000011.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000388922.9",
"protein_id": "ENSP00000373574.4",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1040G>T",
"hgvs_p": "p.Ser347Ile",
"transcript": "ENST00000550683.5",
"protein_id": "ENSP00000447884.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 517,
"cds_start": 1040,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000551576.6",
"protein_id": "ENSP00000455848.2",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000910202.1",
"protein_id": "ENSP00000580261.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 555,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "NM_001077401.2",
"protein_id": "NP_001070869.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "NM_001406487.1",
"protein_id": "NP_001393416.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000910197.1",
"protein_id": "ENSP00000580256.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000910198.1",
"protein_id": "ENSP00000580257.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000910203.1",
"protein_id": "ENSP00000580262.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000910205.1",
"protein_id": "ENSP00000580264.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 503,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.995G>T",
"hgvs_p": "p.Ser332Ile",
"transcript": "ENST00000910201.1",
"protein_id": "ENSP00000580260.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 502,
"cds_start": 995,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "NM_001406488.1",
"protein_id": "NP_001393417.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 494,
"cds_start": 998,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406488.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "NM_001406489.1",
"protein_id": "NP_001393418.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 494,
"cds_start": 998,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406489.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000552678.2",
"protein_id": "ENSP00000457394.2",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 494,
"cds_start": 998,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552678.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000942787.1",
"protein_id": "ENSP00000612846.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 489,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.893G>T",
"hgvs_p": "p.Ser298Ile",
"transcript": "ENST00000713619.1",
"protein_id": "ENSP00000518916.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 468,
"cds_start": 893,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.686G>T",
"hgvs_p": "p.Ser229Ile",
"transcript": "NM_001406490.1",
"protein_id": "NP_001393419.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 451,
"cds_start": 686,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.998G>T",
"hgvs_p": "p.Ser333Ile",
"transcript": "ENST00000910200.1",
"protein_id": "ENSP00000580259.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 437,
"cds_start": 998,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.728G>T",
"hgvs_p": "p.Ser243Ile",
"transcript": "ENST00000547400.6",
"protein_id": "ENSP00000446724.2",
"transcript_support_level": 3,
"aa_start": 243,
"aa_end": null,
"aa_length": 413,
"cds_start": 728,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.686G>T",
"hgvs_p": "p.Ser229Ile",
"transcript": "NM_001406491.1",
"protein_id": "NP_001393420.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 399,
"cds_start": 686,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.686G>T",
"hgvs_p": "p.Ser229Ile",
"transcript": "NM_001406492.1",
"protein_id": "NP_001393421.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 399,
"cds_start": 686,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"computational_score_selected": 0.9941800832748413,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.994,
"phylop100way_prediction": "Pathogenic",
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"acmg_score": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3_Supporting,PP4_Moderate,PP3,PM2_Supporting,PM1,PS4,PP1_Strong",
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{
"score": 15,
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"pathogenic_score": 15,
"criteria": [
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"PP4_Moderate",
"PP3",
"PM2_Supporting",
"PM1",
"PS4",
"PP1_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000020.3",
"gene_symbol": "ACVRL1",
"hgnc_id": 175,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.998G>T",
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}
],
"clinvar_disease": " hereditary hemorrhagic, type 2,Cardiovascular phenotype,Hereditary hemorrhagic telangiectasia,Telangiectasia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:8",
"phenotype_combined": "not provided|Telangiectasia, hereditary hemorrhagic, type 2|Cardiovascular phenotype|Hereditary hemorrhagic telangiectasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}