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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: 9-129060598-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129060598&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129060598,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032809.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "NM_001329990.2",
"protein_id": "NP_001316919.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 593,
"cds_start": 842,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": "ENST00000684074.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329990.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000684074.1",
"protein_id": "ENSP00000506871.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 593,
"cds_start": 842,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": "NM_001329990.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684074.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000358369.8",
"protein_id": "ENSP00000351138.4",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 593,
"cds_start": 842,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358369.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000942817.1",
"protein_id": "ENSP00000612876.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 707,
"cds_start": 842,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942817.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Ala350Val",
"transcript": "ENST00000942819.1",
"protein_id": "ENSP00000612878.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 662,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942819.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ala345Val",
"transcript": "NM_032809.4",
"protein_id": "NP_116198.3",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 657,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032809.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000885494.1",
"protein_id": "ENSP00000555553.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 593,
"cds_start": 842,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885494.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000885496.1",
"protein_id": "ENSP00000555555.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 593,
"cds_start": 842,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885496.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000923055.1",
"protein_id": "ENSP00000593114.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 593,
"cds_start": 842,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923055.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000942814.1",
"protein_id": "ENSP00000612873.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 591,
"cds_start": 842,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942814.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000885495.1",
"protein_id": "ENSP00000555554.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 583,
"cds_start": 842,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885495.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000885493.1",
"protein_id": "ENSP00000555552.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 579,
"cds_start": 842,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885493.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000942820.1",
"protein_id": "ENSP00000612879.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 579,
"cds_start": 842,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942820.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000942816.1",
"protein_id": "ENSP00000612875.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 575,
"cds_start": 842,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942816.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "ENST00000942815.1",
"protein_id": "ENSP00000612874.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 554,
"cds_start": 842,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942815.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ala345Val",
"transcript": "XM_047423975.1",
"protein_id": "XP_047279931.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 562,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423975.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ala345Val",
"transcript": "XM_047423976.1",
"protein_id": "XP_047279932.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 468,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423976.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "XM_011519118.2",
"protein_id": "XP_011517420.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 453,
"cds_start": 422,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519118.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ala13Val",
"transcript": "XM_047423977.1",
"protein_id": "XP_047279933.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 325,
"cds_start": 38,
"cds_end": null,
"cds_length": 978,
"cdna_start": 72,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423977.1"
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.676-7175C>T",
"hgvs_p": null,
"transcript": "ENST00000942818.1",
"protein_id": "ENSP00000612877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942818.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.963C>T",
"hgvs_p": null,
"transcript": "ENST00000439290.5",
"protein_id": "ENSP00000391603.1",
"transcript_support_level": 2,
"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": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.842C>T",
"hgvs_p": null,
"transcript": "ENST00000445183.5",
"protein_id": "ENSP00000396618.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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{
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"feature": "NR_138421.2"
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{
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{
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{
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{
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],
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"gene_symbol": "MIGA2",
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"transcript": "XR_007061362.1",
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],
"gene_symbol": "MIGA2",
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"dbsnp": "rs368061392",
"frequency_reference_population": 0.000016810489,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000158201,
"gnomad_genomes_af": 0.0000262657,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.043121337890625,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0791,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.265,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032809.4",
"gene_symbol": "MIGA2",
"hgnc_id": 23621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ala345Val"
}
],
"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
}