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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: 3-99848762-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=99848762&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 99848762,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001387850.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Gly972Arg",
"transcript": "NM_001387850.1",
"protein_id": "NP_001374779.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000477258.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387850.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Gly972Arg",
"transcript": "ENST00000477258.2",
"protein_id": "ENSP00000417617.2",
"transcript_support_level": 2,
"aa_start": 972,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387850.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477258.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Gly972Arg",
"transcript": "ENST00000354552.7",
"protein_id": "ENSP00000346560.3",
"transcript_support_level": 1,
"aa_start": 972,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354552.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Gly972Arg",
"transcript": "ENST00000331335.9",
"protein_id": "ENSP00000327880.5",
"transcript_support_level": 1,
"aa_start": 972,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331335.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Gly732Arg",
"transcript": "ENST00000471562.1",
"protein_id": "ENSP00000419642.1",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 895,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471562.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Gly732Arg",
"transcript": "ENST00000383694.3",
"protein_id": "ENSP00000373192.2",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 893,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383694.3"
},
{
"aa_ref": "G",
"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": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Gly732Arg",
"transcript": "ENST00000495625.2",
"protein_id": "ENSP00000419874.2",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 836,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495625.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "c.64+30719C>G",
"hgvs_p": null,
"transcript": "NM_032359.4",
"protein_id": "NP_115735.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000421999.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032359.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "c.64+30719C>G",
"hgvs_p": null,
"transcript": "ENST00000421999.8",
"protein_id": "ENSP00000410396.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032359.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421999.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "n.132+30719C>G",
"hgvs_p": null,
"transcript": "ENST00000496116.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000496116.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Gly972Arg",
"transcript": "NM_182909.4",
"protein_id": "NP_878913.2",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182909.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Gly972Arg",
"transcript": "NM_001042459.3",
"protein_id": "NP_001035924.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042459.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Gly732Arg",
"transcript": "NM_001387851.1",
"protein_id": "NP_001374780.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 950,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387851.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Gly732Arg",
"transcript": "NM_001282794.2",
"protein_id": "NP_001269723.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 895,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282794.2"
},
{
"aa_ref": "G",
"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": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Gly732Arg",
"transcript": "NM_001370247.1",
"protein_id": "NP_001357176.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 893,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370247.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Gly732Arg",
"transcript": "NM_014890.4",
"protein_id": "NP_055705.2",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 893,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014890.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Gly548Arg",
"transcript": "NM_001282793.2",
"protein_id": "NP_001269722.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 711,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282793.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Gly548Arg",
"transcript": "ENST00000487087.6",
"protein_id": "ENSP00000417774.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 711,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487087.6"
},
{
"aa_ref": "G",
"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": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2434G>C",
"hgvs_p": "p.Gly812Arg",
"transcript": "XM_047447376.1",
"protein_id": "XP_047303332.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 973,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447376.1"
},
{
"aa_ref": "G",
"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": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Gly784Arg",
"transcript": "XM_011512371.3",
"protein_id": "XP_011510673.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 945,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512371.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.606-18157G>C",
"hgvs_p": null,
"transcript": "NM_001387852.1",
"protein_id": "NP_001374781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387852.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "c.-114+30719C>G",
"hgvs_p": null,
"transcript": "ENST00000463526.1",
"protein_id": "ENSP00000418855.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 24,
"cds_start": null,
"cds_end": null,
"cds_length": 77,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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{
"score": 0,
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{
"score": 0,
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"intron_variant"
],
"inheritance_mode": "",
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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
}