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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: 1-110894367-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=110894367&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 110894367,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000560.4",
"consequences": [
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "NM_000560.4",
"protein_id": "NP_000551.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 293,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271324.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000560.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000271324.6",
"protein_id": "ENSP00000271324.5",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 293,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000560.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271324.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "NM_001040033.2",
"protein_id": "NP_001035122.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 293,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040033.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000648608.2",
"protein_id": "ENSP00000497382.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 293,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648608.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897411.1",
"protein_id": "ENSP00000567470.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 293,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897411.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897420.1",
"protein_id": "ENSP00000567479.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 293,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897420.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897413.1",
"protein_id": "ENSP00000567472.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 217,
"cds_start": 293,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897413.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897406.1",
"protein_id": "ENSP00000567465.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 192,
"cds_start": 293,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897406.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000922910.1",
"protein_id": "ENSP00000592969.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 192,
"cds_start": 293,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922910.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000922912.1",
"protein_id": "ENSP00000592971.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 192,
"cds_start": 293,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922912.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897416.1",
"protein_id": "ENSP00000567475.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 191,
"cds_start": 293,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897416.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897410.1",
"protein_id": "ENSP00000567469.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 187,
"cds_start": 293,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897410.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897409.1",
"protein_id": "ENSP00000567468.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 164,
"cds_start": 293,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897409.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "NM_001320638.2",
"protein_id": "NP_001307567.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 160,
"cds_start": 293,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320638.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897418.1",
"protein_id": "ENSP00000567477.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 160,
"cds_start": 293,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897418.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Thr35Ile",
"transcript": "ENST00000897417.1",
"protein_id": "ENSP00000567476.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 156,
"cds_start": 104,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897417.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "ENST00000897415.1",
"protein_id": "ENSP00000567474.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 132,
"cds_start": 293,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897415.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "XM_047435013.1",
"protein_id": "XP_047290969.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 192,
"cds_start": 293,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435013.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "XM_047435014.1",
"protein_id": "XP_047290970.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 191,
"cds_start": 293,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435014.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Thr98Ile",
"transcript": "XM_047435015.1",
"protein_id": "XP_047290971.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 132,
"cds_start": 293,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435015.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.253-593C>T",
"hgvs_p": null,
"transcript": "ENST00000897414.1",
"protein_id": "ENSP00000567473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897414.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CD53",
"gene_hgnc_id": 1686,
"hgvs_c": "c.252+1834C>T",
"hgvs_p": null,
"transcript": "ENST00000897419.1",
"protein_id": "ENSP00000567478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897419.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": true,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.42,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate",
"BP6_Moderate"
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"verdict": "Likely_benign",
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{
"score": -2,
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"BP6_Moderate"
],
"verdict": "Likely_benign",
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"effects": [
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{
"score": -2,
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XM_017001769.3",
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"effects": [
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],
"inheritance_mode": "Unknown",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}