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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: 2-44201595-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=44201595&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 44201595,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002706.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "NM_002706.6",
"protein_id": "NP_002697.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": "ENST00000282412.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002706.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000282412.9",
"protein_id": "ENSP00000282412.4",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": "NM_002706.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282412.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000378551.6",
"protein_id": "ENSP00000367813.2",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 387,
"cds_start": 396,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378551.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000409432.7",
"protein_id": "ENSP00000387287.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 380,
"cds_start": 396,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409432.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.-15-7615A>T",
"hgvs_p": null,
"transcript": "ENST00000345249.8",
"protein_id": "ENSP00000326089.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345249.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "n.808A>T",
"hgvs_p": null,
"transcript": "ENST00000409486.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000409486.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285542",
"gene_hgnc_id": null,
"hgvs_c": "n.396A>T",
"hgvs_p": null,
"transcript": "ENST00000649044.1",
"protein_id": "ENSP00000497083.1",
"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": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649044.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854777.1",
"protein_id": "ENSP00000524836.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 487,
"cds_start": 396,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854777.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000946340.1",
"protein_id": "ENSP00000616399.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 487,
"cds_start": 396,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946340.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000919024.1",
"protein_id": "ENSP00000589083.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 485,
"cds_start": 396,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919024.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854776.1",
"protein_id": "ENSP00000524835.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 5454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854776.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854778.1",
"protein_id": "ENSP00000524837.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854778.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854779.1",
"protein_id": "ENSP00000524838.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854779.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854780.1",
"protein_id": "ENSP00000524839.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854780.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854781.1",
"protein_id": "ENSP00000524840.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854781.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854782.1",
"protein_id": "ENSP00000524841.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854782.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000854783.1",
"protein_id": "ENSP00000524842.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854783.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000919023.1",
"protein_id": "ENSP00000589082.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919023.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000919025.1",
"protein_id": "ENSP00000589084.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 479,
"cds_start": 396,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919025.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "ENST00000946341.1",
"protein_id": "ENSP00000616400.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 461,
"cds_start": 396,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946341.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "NM_177968.4",
"protein_id": "NP_808907.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 387,
"cds_start": 396,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177968.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser",
"transcript": "NM_001033557.3",
"protein_id": "NP_001028729.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 380,
"cds_start": 396,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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{
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},
{
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],
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"biotype": "pseudogene",
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],
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"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.559,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002706.6",
"gene_symbol": "PPM1B",
"hgnc_id": 9276,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Ser132Ser"
},
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649044.1",
"gene_symbol": "ENSG00000285542",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.396A>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}