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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: 3-127721126-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=127721126&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 127721126,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007283.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Pro146Leu",
"transcript": "NM_007283.7",
"protein_id": "NP_009214.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 313,
"cds_start": 437,
"cds_end": null,
"cds_length": 942,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": "ENST00000265052.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Pro146Leu",
"transcript": "ENST00000265052.10",
"protein_id": "ENSP00000265052.5",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 313,
"cds_start": 437,
"cds_end": null,
"cds_length": 942,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": "NM_007283.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "n.828C>T",
"hgvs_p": null,
"transcript": "ENST00000398101.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.529C>T",
"hgvs_p": null,
"transcript": "ENST00000479967.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Pro146Leu",
"transcript": "NM_001388312.1",
"protein_id": "NP_001375241.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 339,
"cds_start": 437,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Pro136Leu",
"transcript": "NM_001388313.1",
"protein_id": "NP_001375242.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 329,
"cds_start": 407,
"cds_end": null,
"cds_length": 990,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Pro136Leu",
"transcript": "NM_001388314.1",
"protein_id": "NP_001375243.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 305,
"cds_start": 407,
"cds_end": null,
"cds_length": 918,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Pro136Leu",
"transcript": "NM_001003794.3",
"protein_id": "NP_001003794.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 303,
"cds_start": 407,
"cds_end": null,
"cds_length": 912,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Pro110Leu",
"transcript": "NM_001388315.1",
"protein_id": "NP_001375244.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 303,
"cds_start": 329,
"cds_end": null,
"cds_length": 912,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Pro136Leu",
"transcript": "ENST00000398104.6",
"protein_id": "ENSP00000381176.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 303,
"cds_start": 407,
"cds_end": null,
"cds_length": 912,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Pro146Leu",
"transcript": "NM_001256585.2",
"protein_id": "NP_001243514.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 283,
"cds_start": 437,
"cds_end": null,
"cds_length": 852,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Pro146Leu",
"transcript": "ENST00000453507.7",
"protein_id": "ENSP00000404146.2",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 283,
"cds_start": 437,
"cds_end": null,
"cds_length": 852,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Pro110Leu",
"transcript": "NM_001388317.1",
"protein_id": "NP_001375246.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 277,
"cds_start": 329,
"cds_end": null,
"cds_length": 834,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Pro110Leu",
"transcript": "NM_001388318.1",
"protein_id": "NP_001375247.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 277,
"cds_start": 329,
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"cdna_start": 823,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Pro136Leu",
"transcript": "NM_001388316.1",
"protein_id": "NP_001375245.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 273,
"cds_start": 407,
"cds_end": null,
"cds_length": 822,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Pro15Leu",
"transcript": "ENST00000496306.5",
"protein_id": "ENSP00000417060.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 208,
"cds_start": 44,
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"cdna_start": 46,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "ENST00000487473.6",
"protein_id": "ENSP00000420125.2",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 181,
"cds_start": 257,
"cds_end": null,
"cds_length": 546,
"cdna_start": 257,
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"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Pro110Leu",
"transcript": "XM_047447383.1",
"protein_id": "XP_047303339.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 303,
"cds_start": 329,
"cds_end": null,
"cds_length": 912,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Pro110Leu",
"transcript": "XM_017005665.2",
"protein_id": "XP_016861154.1",
"transcript_support_level": null,
"aa_start": 110,
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"cdna_start": 745,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Pro110Leu",
"transcript": "XM_047447384.1",
"protein_id": "XP_047303340.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 247,
"cds_start": 329,
"cds_end": null,
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"cdna_start": 745,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "n.327C>T",
"hgvs_p": null,
"transcript": "ENST00000465597.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "n.506C>T",
"hgvs_p": null,
"transcript": "ENST00000493611.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"hgvs_c": "n.407C>T",
"hgvs_p": null,
"transcript": "ENST00000648300.1",
"protein_id": "ENSP00000497905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MGLL",
"gene_hgnc_id": 17038,
"dbsnp": "rs528804510",
"frequency_reference_population": 0.000018585035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000157332,
"gnomad_genomes_af": 0.0000459547,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.930094301700592,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.668,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2651,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.611,
"phylop100way_prediction": "Pathogenic",
"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": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007283.7",
"gene_symbol": "MGLL",
"hgnc_id": 17038,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Pro146Leu"
}
],
"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
}