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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: 7-2702815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2702815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2702815,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_133463.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001384743.1",
"protein_id": "NP_001371672.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 498,
"cds_start": 398,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683327.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384743.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000683327.1",
"protein_id": "ENSP00000506962.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 498,
"cds_start": 398,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384743.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683327.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000312371.8",
"protein_id": "ENSP00000308149.4",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 498,
"cds_start": 398,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312371.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "n.518C>T",
"hgvs_p": null,
"transcript": "ENST00000485540.5",
"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": "ENST00000485540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "n.170C>T",
"hgvs_p": null,
"transcript": "ENST00000489665.1",
"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": "ENST00000489665.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_133463.4",
"protein_id": "NP_597720.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 498,
"cds_start": 398,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133463.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000880040.1",
"protein_id": "ENSP00000550099.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 498,
"cds_start": 398,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880040.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000954549.1",
"protein_id": "ENSP00000624608.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 498,
"cds_start": 398,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954549.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001384739.1",
"protein_id": "NP_001371668.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 475,
"cds_start": 398,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384739.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000880039.1",
"protein_id": "ENSP00000550098.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 475,
"cds_start": 398,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880039.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000880041.1",
"protein_id": "ENSP00000550100.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 475,
"cds_start": 398,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880041.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001384740.1",
"protein_id": "NP_001371669.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 421,
"cds_start": 398,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384740.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001321766.2",
"protein_id": "NP_001308695.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 398,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321766.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001384742.1",
"protein_id": "NP_001371671.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 298,
"cds_start": 398,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384742.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001284355.4",
"protein_id": "NP_001271284.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 297,
"cds_start": 398,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284355.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000407112.1",
"protein_id": "ENSP00000386020.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 297,
"cds_start": 398,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407112.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001384741.1",
"protein_id": "NP_001371670.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 266,
"cds_start": 398,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384741.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_011515151.4",
"protein_id": "XP_011513453.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 308,
"cds_start": 398,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515151.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_017011774.3",
"protein_id": "XP_016867263.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 308,
"cds_start": 398,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011774.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_047419926.1",
"protein_id": "XP_047275882.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 297,
"cds_start": 398,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419926.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_017011776.2",
"protein_id": "XP_016867265.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 273,
"cds_start": 398,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011776.2"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "c.304+2060C>T",
"hgvs_p": null,
"transcript": "ENST00000880042.1",
"protein_id": "ENSP00000550101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"hgvs_c": "n.340C>T",
"hgvs_p": null,
"transcript": "ENST00000480560.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000480560.5"
}
],
"gene_symbol": "AMZ1",
"gene_hgnc_id": 22231,
"dbsnp": "rs762909854",
"frequency_reference_population": 0.000068161244,
"hom_count_reference_population": 1,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000662893,
"gnomad_genomes_af": 0.0000854173,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15763980150222778,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.306,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.955,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_133463.4",
"gene_symbol": "AMZ1",
"hgnc_id": 22231,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu"
}
],
"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
}