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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: 3-155481011-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155481011&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155481011,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001130960.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Ser1672Asn",
"transcript": "NM_014996.4",
"protein_id": "NP_055811.2",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1685,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000460012.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014996.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Ser1672Asn",
"transcript": "ENST00000460012.7",
"protein_id": "ENSP00000417502.2",
"transcript_support_level": 5,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1685,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014996.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460012.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5039G>A",
"hgvs_p": "p.Ser1680Asn",
"transcript": "ENST00000340059.11",
"protein_id": "ENSP00000345988.7",
"transcript_support_level": 1,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1693,
"cds_start": 5039,
"cds_end": null,
"cds_length": 5082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340059.11"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4925G>A",
"hgvs_p": "p.Ser1642Asn",
"transcript": "ENST00000334686.6",
"protein_id": "ENSP00000335469.6",
"transcript_support_level": 1,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4925,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334686.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.*2058G>A",
"hgvs_p": null,
"transcript": "ENST00000447496.6",
"protein_id": "ENSP00000402759.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": null,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447496.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5075G>A",
"hgvs_p": "p.Ser1692Asn",
"transcript": "ENST00000968450.1",
"protein_id": "ENSP00000638509.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1705,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968450.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5039G>A",
"hgvs_p": "p.Ser1680Asn",
"transcript": "NM_001130960.2",
"protein_id": "NP_001124432.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1693,
"cds_start": 5039,
"cds_end": null,
"cds_length": 5082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130960.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Ser1671Asn",
"transcript": "NM_001349251.2",
"protein_id": "NP_001336180.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1684,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349251.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Ser1671Asn",
"transcript": "ENST00000897135.1",
"protein_id": "ENSP00000567194.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1684,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897135.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4943G>A",
"hgvs_p": "p.Ser1648Asn",
"transcript": "ENST00000924317.1",
"protein_id": "ENSP00000594376.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4943,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924317.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4868G>A",
"hgvs_p": "p.Ser1623Asn",
"transcript": "ENST00000924319.1",
"protein_id": "ENSP00000594378.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1636,
"cds_start": 4868,
"cds_end": null,
"cds_length": 4911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924319.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4853G>A",
"hgvs_p": "p.Ser1618Asn",
"transcript": "ENST00000924320.1",
"protein_id": "ENSP00000594379.1",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1631,
"cds_start": 4853,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924320.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4796G>A",
"hgvs_p": "p.Ser1599Asn",
"transcript": "ENST00000924321.1",
"protein_id": "ENSP00000594380.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4796,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924321.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4424G>A",
"hgvs_p": "p.Ser1475Asn",
"transcript": "ENST00000924318.1",
"protein_id": "ENSP00000594377.1",
"transcript_support_level": null,
"aa_start": 1475,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4424,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924318.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5075G>A",
"hgvs_p": "p.Ser1692Asn",
"transcript": "XM_005247238.2",
"protein_id": "XP_005247295.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1705,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247238.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5075G>A",
"hgvs_p": "p.Ser1692Asn",
"transcript": "XM_011512560.4",
"protein_id": "XP_011510862.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1705,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512560.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5075G>A",
"hgvs_p": "p.Ser1692Asn",
"transcript": "XM_011512561.3",
"protein_id": "XP_011510863.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1705,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512561.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5075G>A",
"hgvs_p": "p.Ser1692Asn",
"transcript": "XM_011512562.4",
"protein_id": "XP_011510864.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1705,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512562.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5072G>A",
"hgvs_p": "p.Ser1691Asn",
"transcript": "XM_017005923.2",
"protein_id": "XP_016861412.1",
"transcript_support_level": null,
"aa_start": 1691,
"aa_end": null,
"aa_length": 1704,
"cds_start": 5072,
"cds_end": null,
"cds_length": 5115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005923.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5003G>A",
"hgvs_p": "p.Ser1668Asn",
"transcript": "XM_017005925.2",
"protein_id": "XP_016861414.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1681,
"cds_start": 5003,
"cds_end": null,
"cds_length": 5046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005925.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.5000G>A",
"hgvs_p": "p.Ser1667Asn",
"transcript": "XM_047447745.1",
"protein_id": "XP_047303701.1",
"transcript_support_level": null,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1680,
"cds_start": 5000,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447745.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4985G>A",
"hgvs_p": "p.Ser1662Asn",
"transcript": "XM_011512565.3",
"protein_id": "XP_011510867.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4985,
"cds_end": null,
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"cdna_start": null,
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],
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"allele_count_reference_population": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_score": 0.077,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
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"pathogenic_score": 2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}