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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: 17-7673717-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7673717&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7673717,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000546.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "NM_000546.6",
"protein_id": "NP_000537.3",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 393,
"cds_start": 903,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "ENST00000269305.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000269305.9",
"protein_id": "ENSP00000269305.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 393,
"cds_start": 903,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "NM_000546.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000445888.6",
"protein_id": "ENSP00000391478.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 393,
"cds_start": 903,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.786A>G",
"hgvs_p": "p.Pro262Pro",
"transcript": "ENST00000610292.4",
"protein_id": "ENSP00000478219.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 354,
"cds_start": 786,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.786A>G",
"hgvs_p": "p.Pro262Pro",
"transcript": "ENST00000619485.4",
"protein_id": "ENSP00000482537.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 354,
"cds_start": 786,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.786A>G",
"hgvs_p": "p.Pro262Pro",
"transcript": "ENST00000620739.4",
"protein_id": "ENSP00000481638.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 354,
"cds_start": 786,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000455263.6",
"protein_id": "ENSP00000398846.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 346,
"cds_start": 903,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000576024.2",
"protein_id": "ENSP00000458393.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 344,
"cds_start": 903,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000359597.8",
"protein_id": "ENSP00000352610.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 343,
"cds_start": 903,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000420246.6",
"protein_id": "ENSP00000391127.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 341,
"cds_start": 903,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.786A>G",
"hgvs_p": "p.Pro262Pro",
"transcript": "ENST00000610538.4",
"protein_id": "ENSP00000480868.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 307,
"cds_start": 786,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.786A>G",
"hgvs_p": "p.Pro262Pro",
"transcript": "ENST00000622645.4",
"protein_id": "ENSP00000482222.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 302,
"cds_start": 786,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.624A>G",
"hgvs_p": "p.Pro208Pro",
"transcript": "ENST00000514944.6",
"protein_id": "ENSP00000423862.2",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 300,
"cds_start": 624,
"cds_end": null,
"cds_length": 903,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Pro169Pro",
"transcript": "ENST00000504937.5",
"protein_id": "ENSP00000481179.1",
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"cds_start": 507,
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"cdna_start": 785,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.426A>G",
"hgvs_p": "p.Pro142Pro",
"transcript": "ENST00000619186.4",
"protein_id": "ENSP00000484375.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 234,
"cds_start": 426,
"cds_end": null,
"cds_length": 705,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Pro169Pro",
"transcript": "ENST00000504290.5",
"protein_id": "ENSP00000484409.1",
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"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Pro169Pro",
"transcript": "ENST00000510385.5",
"protein_id": "ENSP00000478499.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
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"cds_start": 507,
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"cdna_start": 785,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.426A>G",
"hgvs_p": "p.Pro142Pro",
"transcript": "ENST00000610623.4",
"protein_id": "ENSP00000477531.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 187,
"cds_start": 426,
"cds_end": null,
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"cdna_start": 785,
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"cdna_length": 2331,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.426A>G",
"hgvs_p": "p.Pro142Pro",
"transcript": "ENST00000618944.4",
"protein_id": "ENSP00000481401.1",
"transcript_support_level": 1,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.782+464A>G",
"hgvs_p": null,
"transcript": "ENST00000413465.6",
"protein_id": "ENSP00000410739.2",
"transcript_support_level": 1,
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"cdna_start": null,
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"mane_select": null,
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},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000714408.1",
"protein_id": "ENSP00000519678.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "NM_001126112.3",
"protein_id": "NP_001119584.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 393,
"cds_start": 903,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Pro301Pro",
"transcript": "NM_001407262.1",
"protein_id": "NP_001394191.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.213,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": -21,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000546.6",
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Familial cancer of breast,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,Li-Fraumeni syndrome,Li-Fraumeni syndrome 1,Malignant tumor of breast,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:8 B:7",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|not specified|not provided|Li-Fraumeni syndrome|Malignant tumor of breast|Familial cancer of breast|Li-Fraumeni syndrome 1|Hereditary breast ovarian cancer syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}