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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: 1-89008975-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=89008975&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 89008975,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018284.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "NM_018284.3",
"protein_id": "NP_060754.2",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 595,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": "ENST00000370481.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018284.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "ENST00000370481.9",
"protein_id": "ENSP00000359512.4",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 595,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": "NM_018284.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370481.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*264A>G",
"hgvs_p": null,
"transcript": "ENST00000489444.6",
"protein_id": "ENSP00000437168.2",
"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": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489444.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*1441A>G",
"hgvs_p": null,
"transcript": "ENST00000493594.6",
"protein_id": "ENSP00000456449.1",
"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": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493594.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*264A>G",
"hgvs_p": null,
"transcript": "ENST00000489444.6",
"protein_id": "ENSP00000437168.2",
"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": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489444.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*1441A>G",
"hgvs_p": null,
"transcript": "ENST00000493594.6",
"protein_id": "ENSP00000456449.1",
"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": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493594.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "ENST00000879051.1",
"protein_id": "ENSP00000549110.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 595,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879051.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Gln517Arg",
"transcript": "NM_001436844.1",
"protein_id": "NP_001423773.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 568,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436844.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Gln517Arg",
"transcript": "ENST00000850557.1",
"protein_id": "ENSP00000520850.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 568,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850557.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Gln517Arg",
"transcript": "NM_001319181.2",
"protein_id": "NP_001306110.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 544,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319181.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Gln465Arg",
"transcript": "NM_001319179.2",
"protein_id": "NP_001306108.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 516,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319179.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001436845.1",
"protein_id": "NP_001423774.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 514,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436845.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "ENST00000879050.1",
"protein_id": "ENSP00000549109.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 514,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879050.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Gln436Arg",
"transcript": "ENST00000955701.1",
"protein_id": "ENSP00000625760.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 487,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955701.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1229A>G",
"hgvs_p": "p.Gln410Arg",
"transcript": "NM_001319180.2",
"protein_id": "NP_001306109.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 461,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319180.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Gln345Arg",
"transcript": "ENST00000955700.1",
"protein_id": "ENSP00000625759.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 396,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955700.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Gln190Arg",
"transcript": "ENST00000461384.6",
"protein_id": "ENSP00000454978.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 217,
"cds_start": 569,
"cds_end": null,
"cds_length": 654,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461384.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Gln124Arg",
"transcript": "ENST00000445969.1",
"protein_id": "ENSP00000415087.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 136,
"cds_start": 371,
"cds_end": null,
"cds_length": 411,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445969.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Gln465Arg",
"transcript": "XM_011541233.2",
"protein_id": "XP_011539535.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 516,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541233.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*1344A>G",
"hgvs_p": null,
"transcript": "ENST00000235878.5",
"protein_id": "ENSP00000235878.5",
"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": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000235878.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.2476A>G",
"hgvs_p": null,
"transcript": "ENST00000370482.6",
"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": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000370482.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.1342A>G",
"hgvs_p": null,
"transcript": "NR_135007.2",
"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": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_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"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}