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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: 19-805080-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=805080&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 805080,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002819.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Ser262Asn",
"transcript": "NM_002819.5",
"protein_id": "NP_002810.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 557,
"cds_start": 785,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "ENST00000356948.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Ser262Asn",
"transcript": "ENST00000356948.11",
"protein_id": "ENSP00000349428.4",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 557,
"cds_start": 785,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "NM_002819.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Ser262Asn",
"transcript": "ENST00000394601.8",
"protein_id": "ENSP00000408096.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 550,
"cds_start": 785,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Ser262Asn",
"transcript": "ENST00000349038.8",
"protein_id": "ENSP00000014112.5",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 531,
"cds_start": 785,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Ser232Asn",
"transcript": "ENST00000350092.8",
"protein_id": "ENSP00000342332.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 527,
"cds_start": 695,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn",
"transcript": "ENST00000635647.1",
"protein_id": "ENSP00000489604.1",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 588,
"cds_start": 878,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Ser264Asn",
"transcript": "NM_001411140.1",
"protein_id": "NP_001398069.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 559,
"cds_start": 791,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Ser264Asn",
"transcript": "ENST00000679114.1",
"protein_id": "ENSP00000504829.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 559,
"cds_start": 791,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Ser262Asn",
"transcript": "NM_031990.4",
"protein_id": "NP_114367.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 550,
"cds_start": 785,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Ser262Asn",
"transcript": "NM_031991.4",
"protein_id": "NP_114368.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 531,
"cds_start": 785,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Ser86Asn",
"transcript": "ENST00000585956.5",
"protein_id": "ENSP00000465451.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 254,
"cds_start": 257,
"cds_end": null,
"cds_length": 765,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Ser264Asn",
"transcript": "XM_005259598.3",
"protein_id": "XP_005259655.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 533,
"cds_start": 791,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Ser264Asn",
"transcript": "XM_047439114.1",
"protein_id": "XP_047295070.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 383,
"cds_start": 791,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.855G>A",
"hgvs_p": null,
"transcript": "ENST00000586944.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.223G>A",
"hgvs_p": null,
"transcript": "ENST00000587136.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.908G>A",
"hgvs_p": null,
"transcript": "ENST00000592113.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.885G>A",
"hgvs_p": null,
"transcript": "ENST00000592804.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.398G>A",
"hgvs_p": null,
"transcript": "ENST00000621737.4",
"protein_id": "ENSP00000478414.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.785G>A",
"hgvs_p": null,
"transcript": "ENST00000676227.1",
"protein_id": "ENSP00000501551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.785G>A",
"hgvs_p": null,
"transcript": "ENST00000677277.1",
"protein_id": "ENSP00000504032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.40-2789G>A",
"hgvs_p": null,
"transcript": "ENST00000627714.2",
"protein_id": "ENSP00000486218.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.231+872G>A",
"hgvs_p": null,
"transcript": "ENST00000585535.2",
"protein_id": "ENSP00000466250.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.-65-3280G>A",
"hgvs_p": null,
"transcript": "ENST00000587191.3",
"protein_id": "ENSP00000478974.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}