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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: X-154507440-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154507440&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154507440,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001282311.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "NM_021806.4",
"protein_id": "NP_068578.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447601.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021806.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000447601.7",
"protein_id": "ENSP00000416146.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021806.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447601.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Val176Leu",
"transcript": "ENST00000858761.1",
"protein_id": "ENSP00000528820.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 260,
"cds_start": 526,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858761.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000858759.1",
"protein_id": "ENSP00000528818.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 246,
"cds_start": 484,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858759.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000858762.1",
"protein_id": "ENSP00000528821.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 246,
"cds_start": 484,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858762.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.478G>C",
"hgvs_p": "p.Val160Leu",
"transcript": "NM_001282311.2",
"protein_id": "NP_001269240.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 244,
"cds_start": 478,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282311.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.478G>C",
"hgvs_p": "p.Val160Leu",
"transcript": "ENST00000322269.10",
"protein_id": "ENSP00000320521.7",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 244,
"cds_start": 478,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322269.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Val154Leu",
"transcript": "ENST00000858758.1",
"protein_id": "ENSP00000528817.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 238,
"cds_start": 460,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858758.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_001363822.2",
"protein_id": "NP_001350751.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 237,
"cds_start": 457,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363822.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000369641.7",
"protein_id": "ENSP00000358655.3",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 237,
"cds_start": 457,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369641.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000858755.1",
"protein_id": "ENSP00000528814.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 237,
"cds_start": 457,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858755.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000959364.1",
"protein_id": "ENSP00000629423.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 237,
"cds_start": 457,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959364.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000959368.1",
"protein_id": "ENSP00000629427.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 237,
"cds_start": 457,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959368.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "NM_001171132.3",
"protein_id": "NP_001164603.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171132.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "NM_001282312.2",
"protein_id": "NP_001269241.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282312.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000359889.9",
"protein_id": "ENSP00000352955.5",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359889.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000369643.5",
"protein_id": "ENSP00000358657.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369643.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000858757.1",
"protein_id": "ENSP00000528816.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858757.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000959365.1",
"protein_id": "ENSP00000629424.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959365.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000959366.1",
"protein_id": "ENSP00000629425.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959366.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000959367.1",
"protein_id": "ENSP00000629426.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959367.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Val145Leu",
"transcript": "ENST00000858763.1",
"protein_id": "ENSP00000528822.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 229,
"cds_start": 433,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"feature": "ENST00000621967.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*476G>C",
"hgvs_p": null,
"transcript": "ENST00000440318.5",
"protein_id": "ENSP00000401367.1",
"transcript_support_level": 5,
"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": "ENST00000440318.5"
}
],
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6617891788482666,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.5176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.416,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282311.2",
"gene_symbol": "FAM3A",
"hgnc_id": 13749,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.478G>C",
"hgvs_p": "p.Val160Leu"
}
],
"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
}