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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: 3-127695035-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=127695035&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 127695035,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001388312.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.756T>G",
"hgvs_p": "p.Cys252Trp",
"transcript": "NM_007283.7",
"protein_id": "NP_009214.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 313,
"cds_start": 756,
"cds_end": null,
"cds_length": 942,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": "ENST00000265052.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007283.7"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.756T>G",
"hgvs_p": "p.Cys252Trp",
"transcript": "ENST00000265052.10",
"protein_id": "ENSP00000265052.5",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 313,
"cds_start": 756,
"cds_end": null,
"cds_length": 942,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": "NM_007283.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265052.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "n.1147T>G",
"hgvs_p": null,
"transcript": "ENST00000398101.7",
"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": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000398101.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "n.3727T>G",
"hgvs_p": null,
"transcript": "ENST00000476682.1",
"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": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476682.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.1263T>G",
"hgvs_p": "p.Cys421Trp",
"transcript": "ENST00000959996.1",
"protein_id": "ENSP00000630055.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 482,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959996.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.960T>G",
"hgvs_p": "p.Cys320Trp",
"transcript": "ENST00000864856.1",
"protein_id": "ENSP00000534915.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 381,
"cds_start": 960,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864856.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.834T>G",
"hgvs_p": "p.Cys278Trp",
"transcript": "NM_001388312.1",
"protein_id": "NP_001375241.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 339,
"cds_start": 834,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388312.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.834T>G",
"hgvs_p": "p.Cys278Trp",
"transcript": "ENST00000864851.1",
"protein_id": "ENSP00000534910.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 339,
"cds_start": 834,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864851.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.804T>G",
"hgvs_p": "p.Cys268Trp",
"transcript": "NM_001388313.1",
"protein_id": "NP_001375242.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 329,
"cds_start": 804,
"cds_end": null,
"cds_length": 990,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388313.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.756T>G",
"hgvs_p": "p.Cys252Trp",
"transcript": "ENST00000864852.1",
"protein_id": "ENSP00000534911.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 313,
"cds_start": 756,
"cds_end": null,
"cds_length": 942,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864852.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.726T>G",
"hgvs_p": "p.Cys242Trp",
"transcript": "NM_001388314.1",
"protein_id": "NP_001375243.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 305,
"cds_start": 726,
"cds_end": null,
"cds_length": 918,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388314.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.729T>G",
"hgvs_p": "p.Cys243Trp",
"transcript": "ENST00000864853.1",
"protein_id": "ENSP00000534912.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 304,
"cds_start": 729,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864853.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.726T>G",
"hgvs_p": "p.Cys242Trp",
"transcript": "NM_001003794.3",
"protein_id": "NP_001003794.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 303,
"cds_start": 726,
"cds_end": null,
"cds_length": 912,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003794.3"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.726T>G",
"hgvs_p": "p.Cys242Trp",
"transcript": "NM_001388315.1",
"protein_id": "NP_001375244.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 303,
"cds_start": 726,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388315.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.726T>G",
"hgvs_p": "p.Cys242Trp",
"transcript": "ENST00000398104.6",
"protein_id": "ENSP00000381176.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 303,
"cds_start": 726,
"cds_end": null,
"cds_length": 912,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398104.6"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.720T>G",
"hgvs_p": "p.Cys240Trp",
"transcript": "ENST00000864855.1",
"protein_id": "ENSP00000534914.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 301,
"cds_start": 720,
"cds_end": null,
"cds_length": 906,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864855.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.666T>G",
"hgvs_p": "p.Cys222Trp",
"transcript": "NM_001256585.2",
"protein_id": "NP_001243514.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 283,
"cds_start": 666,
"cds_end": null,
"cds_length": 852,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256585.2"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.666T>G",
"hgvs_p": "p.Cys222Trp",
"transcript": "ENST00000453507.7",
"protein_id": "ENSP00000404146.2",
"transcript_support_level": 2,
"aa_start": 222,
"aa_end": null,
"aa_length": 283,
"cds_start": 666,
"cds_end": null,
"cds_length": 852,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453507.7"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.648T>G",
"hgvs_p": "p.Cys216Trp",
"transcript": "NM_001388317.1",
"protein_id": "NP_001375246.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 277,
"cds_start": 648,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388317.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.648T>G",
"hgvs_p": "p.Cys216Trp",
"transcript": "NM_001388318.1",
"protein_id": "NP_001375247.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 277,
"cds_start": 648,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388318.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.636T>G",
"hgvs_p": "p.Cys212Trp",
"transcript": "NM_001388316.1",
"protein_id": "NP_001375245.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 273,
"cds_start": 636,
"cds_end": null,
"cds_length": 822,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388316.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.621T>G",
"hgvs_p": "p.Cys207Trp",
"transcript": "ENST00000864854.1",
"protein_id": "ENSP00000534913.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 268,
"cds_start": 621,
"cds_end": null,
"cds_length": 807,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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},
{
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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "MGLL",
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"dbsnp": null,
"frequency_reference_population": 6.840769e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84077e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9258152842521667,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.731,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.035,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001388312.1",
"gene_symbol": "MGLL",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}