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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: 2-178432178-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178432178&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178432178,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003690.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.861C>T",
"hgvs_p": "p.Ser287Ser",
"transcript": "NM_003690.5",
"protein_id": "NP_003681.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 313,
"cds_start": 861,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": "ENST00000325748.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003690.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.861C>T",
"hgvs_p": "p.Ser287Ser",
"transcript": "ENST00000325748.9",
"protein_id": "ENSP00000318176.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 313,
"cds_start": 861,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": "NM_003690.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325748.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Ser276Ser",
"transcript": "ENST00000432031.6",
"protein_id": "ENSP00000393883.2",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 302,
"cds_start": 828,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432031.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.786C>T",
"hgvs_p": "p.Ser262Ser",
"transcript": "ENST00000487082.5",
"protein_id": "ENSP00000430604.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 288,
"cds_start": 786,
"cds_end": null,
"cds_length": 867,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487082.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Ser276Ser",
"transcript": "NM_001139517.1",
"protein_id": "NP_001132989.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 302,
"cds_start": 828,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139517.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.810C>T",
"hgvs_p": "p.Ser270Ser",
"transcript": "ENST00000914393.1",
"protein_id": "ENSP00000584452.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 296,
"cds_start": 810,
"cds_end": null,
"cds_length": 891,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914393.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.786C>T",
"hgvs_p": "p.Ser262Ser",
"transcript": "NM_001139518.1",
"protein_id": "NP_001132990.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 288,
"cds_start": 786,
"cds_end": null,
"cds_length": 867,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139518.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.609C>T",
"hgvs_p": "p.Ser203Ser",
"transcript": "ENST00000677981.1",
"protein_id": "ENSP00000503536.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 229,
"cds_start": 609,
"cds_end": null,
"cds_length": 690,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677981.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Ser202Ser",
"transcript": "ENST00000677689.1",
"protein_id": "ENSP00000502919.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 228,
"cds_start": 606,
"cds_end": null,
"cds_length": 687,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677689.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Ser197Ser",
"transcript": "ENST00000967043.1",
"protein_id": "ENSP00000637102.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 223,
"cds_start": 591,
"cds_end": null,
"cds_length": 672,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967043.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Ser192Ser",
"transcript": "ENST00000914392.1",
"protein_id": "ENSP00000584451.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 218,
"cds_start": 576,
"cds_end": null,
"cds_length": 657,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914392.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Ser174Ser",
"transcript": "NM_001316362.2",
"protein_id": "NP_001303291.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 200,
"cds_start": 522,
"cds_end": null,
"cds_length": 603,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316362.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Ser174Ser",
"transcript": "ENST00000678775.1",
"protein_id": "ENSP00000504030.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 200,
"cds_start": 522,
"cds_end": null,
"cds_length": 603,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678775.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Ser174Ser",
"transcript": "ENST00000678845.1",
"protein_id": "ENSP00000503011.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 200,
"cds_start": 522,
"cds_end": null,
"cds_length": 603,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678845.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Ser202Ser",
"transcript": "XM_011512063.3",
"protein_id": "XP_011510365.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 228,
"cds_start": 606,
"cds_end": null,
"cds_length": 687,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512063.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHROMR",
"gene_hgnc_id": 54059,
"hgvs_c": "n.656G>A",
"hgvs_p": null,
"transcript": "ENST00000415236.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415236.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.*653C>T",
"hgvs_p": null,
"transcript": "ENST00000424699.5",
"protein_id": "ENSP00000408029.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424699.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.*589C>T",
"hgvs_p": null,
"transcript": "ENST00000448279.2",
"protein_id": "ENSP00000388455.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448279.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.*365C>T",
"hgvs_p": null,
"transcript": "ENST00000457633.2",
"protein_id": "ENSP00000408668.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457633.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.1002C>T",
"hgvs_p": null,
"transcript": "ENST00000474793.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474793.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.1088C>T",
"hgvs_p": null,
"transcript": "ENST00000490501.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490501.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHROMR",
"gene_hgnc_id": 54059,
"hgvs_c": "n.1496G>A",
"hgvs_p": null,
"transcript": "ENST00000660374.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000660374.1"
},
{
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],
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"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.807,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -11,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
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"verdict": "Benign",
"transcript": "NM_003690.5",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -10,
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"BP4_Strong",
"BP6_Very_Strong"
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"verdict": "Benign",
"transcript": "ENST00000415236.2",
"gene_symbol": "CHROMR",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.656G>A",
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],
"clinvar_disease": "Dystonia 16,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Dystonia 16|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}