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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: 7-99849584-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99849584&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99849584,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022820.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "NM_057095.3",
"protein_id": "NP_476436.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 503,
"cds_start": 560,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354829.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057095.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000354829.7",
"protein_id": "ENSP00000346887.3",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 503,
"cds_start": 560,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_057095.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354829.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000222382.5",
"protein_id": "ENSP00000222382.5",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 504,
"cds_start": 560,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222382.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000312017.9",
"protein_id": "ENSP00000312110.5",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 420,
"cds_start": 560,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312017.9"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.341-6007C>T",
"hgvs_p": null,
"transcript": "ENST00000417625.5",
"protein_id": "ENSP00000416581.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417625.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.560C>T",
"hgvs_p": null,
"transcript": "ENST00000434806.5",
"protein_id": "ENSP00000411653.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*253C>T",
"hgvs_p": null,
"transcript": "ENST00000436834.5",
"protein_id": "ENSP00000415221.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436834.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*253C>T",
"hgvs_p": null,
"transcript": "ENST00000436834.5",
"protein_id": "ENSP00000415221.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436834.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000874626.1",
"protein_id": "ENSP00000544685.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 542,
"cds_start": 560,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874626.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000874622.1",
"protein_id": "ENSP00000544681.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 534,
"cds_start": 560,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874622.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Ile",
"transcript": "ENST00000874623.1",
"protein_id": "ENSP00000544682.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 508,
"cds_start": 575,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874623.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "NM_022820.5",
"protein_id": "NP_073731.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 504,
"cds_start": 560,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022820.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000874627.1",
"protein_id": "ENSP00000544686.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 496,
"cds_start": 560,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874627.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000874625.1",
"protein_id": "ENSP00000544684.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 495,
"cds_start": 560,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874625.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Thr149Ile",
"transcript": "ENST00000874624.1",
"protein_id": "ENSP00000544683.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 465,
"cds_start": 446,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874624.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "NM_057096.4",
"protein_id": "NP_476437.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 420,
"cds_start": 560,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057096.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "XM_047420745.1",
"protein_id": "XP_047276701.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 394,
"cds_start": 230,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420745.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "XM_047420746.1",
"protein_id": "XP_047276702.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 394,
"cds_start": 230,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420746.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Ile",
"transcript": "XM_017012544.2",
"protein_id": "XP_016868033.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 360,
"cds_start": 128,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012544.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Ile",
"transcript": "XM_017012545.2",
"protein_id": "XP_016868034.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 360,
"cds_start": 128,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012545.2"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.341-6007C>T",
"hgvs_p": null,
"transcript": "NM_001278921.2",
"protein_id": "NP_001265850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278921.2"
},
{
"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": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.166-7249C>T",
"hgvs_p": null,
"transcript": "ENST00000415413.5",
"protein_id": "ENSP00000401521.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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"feature": "NR_103869.2"
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{
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{
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{
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],
"gene_symbol": "CYP3A43",
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"dbsnp": "rs368001388",
"frequency_reference_population": 0.000040310028,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000410871,
"gnomad_genomes_af": 0.0000328541,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8109127283096313,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.333,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3212,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.925,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022820.5",
"gene_symbol": "CYP3A43",
"hgnc_id": 17450,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile"
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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
}